EXPERIENCES WITH SICKLE CELL DISEASE SCREENING AND …

EXPERIENCES WITH SICKLE CELL DISEASE SCREENING AND DIAGNOSIS

USING PARENTAL EXPERIENCES WITH SICKLE CELL DISEASE SCREENING

AND DIAGNOSIS TO GUIDE HEALTH SCIENCE EDUCATION:

A SYSTEMATIC REVIEW AND INTEGRATIVE QUALITATIVE

META-SYNTHESIS

BY

SIMONE GRIFFITH, B.HSc.

A THESIS

SUBMITTED TO THE DEPARTMENT OF HEALTH SCIENCE EDUCATION

AND THE SCHOOL OF GRADUATE STUDIES

OF MCMASTER UNIVERSITY

IN PARTIAL FULFILMENT OF THE REQUIREMENTS

FOR THE DEGREE OF

MASTER OF SCIENCE

McMaster University © Copyright by Simone Griffith, April 2021

ii

MASTER OF SCIENCE (2021) McMaster University

(Department of Health Science Education) Hamilton, Ontario

TITLE: Using Parental Experiences with Sickle Cell Disease

Screening and Diagnosis to Guide Health Science Education:

A Systematic Review and Integrative Qualitative

Meta-Synthesis

AUTHOR: Simone Griffith, B.HSc.

SUPERVISOR: Dr. Meredith Vanstone

NUMBER OF PAGES: xiii, 110

iii

Abstract

Sickle cell disease (SCD) is a chronic, lifelong, often debilitating, inherited disorder that

can affect every organ system. Affected individuals often experience repetitive pain

crises, multiple hospitalizations and a diminished quality of life. Many people at risk for

SCD are unaware of their sickle cell carrier status and surprisingly health care providers’

knowledge of SCD is limited. Research literature focuses mainly on management of

clinical manifestations of the disease. This systematic review and integrative qualitative

meta-synthesis aims to capture parents’ perspectives on the screening process and

diagnosis of SCD or sickle cell trait (SCT). Information generated by this review will be

helpful in contributing to the development or enhancement of guidelines and protocols in

SCD and SCT management for health care providers and health care educators.

.

iv

Acknowledgements

This work would not have been possible without the support of McMaster Health

Science Education staff members and Marija Radomirovic, who liaised with the Graduate

Department on several occasions on my behalf.

I am grateful to Dr. Lawrence Grierson, whose support facilitated my ability to

complete this program. The members of my Thesis Committee graciously gave of their

time, too often on short notice, and provided critical and positive feedback, all while

navigating scholastic challenges during the COVID pandemic. They offered kind words

of encouragement and gently guided me.

I would especially like to thank Dr. Meredith Vanstone, who exemplified the

epitome of kindness and never ending patience. Through her sage guidance, she

mentored me and gave me courage to believe that I could complete my Master’s thesis

while I maintained a fulltime job in the health care sector. She always greeted me with a

smile and she never made me feel as though I was too much work. I am not sure that my

words can truly capture the depth of my gratitude.

And my family, who I have most certainly neglected in the months preceding my

Master’s thesis defence. My mother, Cecile, has been invaluable, loving me and

supporting me as always, and my son, Kyle, always the cheerleader. I am fortunate to

have their support now and always.

v

Table of Contents

Abstract ........................................................................................................................... iii

Acknowledgements ........................................................................................................ iv

Table of Contents ............................................................................................................ v

List of Tables .................................................................................................................. ix

List of Figures .................................................................................................................. x

List of Diagrams ............................................................................................................. xi

List of Abbreviations .................................................................................................... xii

Declaration of Academic Achievement ...................................................................... xiii

1. Introduction ............................................................................................................ 14

2. Clinical Background .............................................................................................. 17

Etiology of Sickle Cell Disease ....................................................................... 18

Types of Sickle Cell Disease ........................................................................... 18

Sickle Cell Trait ....................................................................................... 18

Inheritance Pattern of Sickle Cell Disease ............................................. 20

Sequelae of Sickle Cell Disease ............................................................... 21

3. Lifespan, Treatment and Cure ............................................................................. 22

Lifespan............................................................................................................ 22

Treatment ........................................................................................................ 23

Cure .................................................................................................................. 23

Haematopoietic Stem Cell Transplant ................................................... 23

Gene Therapy ........................................................................................... 24

4. Screening and Diagnosis of Sickle Cell Disease and Sickle Cell Trait .............. 24

Haemoglobin Electrophoresis ........................................................................ 24

Sickle Cell Solubility Test .............................................................................. 24

Newborn Screen .............................................................................................. 24

Genetic Counseling for Pre-marital or Pre-conception Screening ............. 25

Genetic Counseling during the Antenatal Period ........................................ 25

Chorionic Villus Sampling ...................................................................... 25

vi

Amniocentesis ........................................................................................... 26

Author’s Professional Experience with Sickle Cell

Disease Screening ............................................................................................ 26

5. Method .................................................................................................................... 27

Methodology .................................................................................................... 27

Study Design .................................................................................................... 28

Data Extraction ............................................................................................... 29

Data Analysis ................................................................................................... 29

6. Results ..................................................................................................................... 37

Antenatal Screening for Sickle Cell

Disease (Haemoglobinopathy) ....................................................................... 39

Informed Choice to Screen and Reasons to Accept

Sickle Cell Disease (Haemoglobinopathy) Screening ........................... 39

Awareness and Education of Sickle Cell

Disease or Sickle Cell Trait ..................................................................... 41

Timing of Sickle Cell Disease (Haemoglobinopathy) Screening,

Planning of Pregnancy and Termination of Pregnancy ....................... 42

Responsibility for Sickle Cell Disease (Haemoglobinopathy)

Screening .................................................................................................. 43

Family Influence on Sickle Cell Disease

(Haemoglobinopathy) Screening ............................................................ 44

Role of Religion in Sickle Cell Disease

(Haemoglobinopathy) Screening ............................................................ 45

Sickle Cell Trait Diagnosis ............................................................................. 45

Awareness and Education of Sickle Cell Trait...................................... 46

Antenatal Screening ......................................................................... 46

Newborn Screening ........................................................................... 46

Disclosure of Sickle Cell Trait Results ................................................... 47

Communication of Sickle Cell Trait Results ......................................... 48

vii

Emotional Response to Sickle Cell Trait Diagnosis .............................. 49

Sharing of Sickle Cell Trait Results and Family Support.................... 49

Paternity ................................................................................................... 50

Cascade Testing ....................................................................................... 50

Sickle Cell Disease Diagnosis ......................................................................... 51

Awareness and Education of Sickle Cell Disease .................................. 51

Communication of Sickle Cell Disease Results ..................................... 52

Emotional Response to Sickle Cell Disease Diagnosis .......................... 53

Child’s Future .......................................................................................... 53

Implications for Future Pregnancy Planning and

Parental Relationships............................................................................. 54

Sharing Sickle Cell Disease Diagnosis and Support ............................. 54

7. Discussion ............................................................................................................... 55

8. Interpretation of Results ....................................................................................... 57

Lived Experience of People with Sickle Cell Disease .................................. 57

Informed Choice ............................................................................................. 58

Role of the Health Care Provider and the Responsibility of the

Education System ............................................................................................ 61

Role of the Health Care Provider ........................................................... 61

Role of the Health Care Education System ........................................... 62

Individual Screening versus Population Based Screening

for Sickle Cell Disease..................................................................................... 63

Antenatal Screening for Sickle Cell Disease .......................................... 63

Population Based Screening for Sickle Cell Disease ............................. 64

Racism in Healthcare and Research ............................................................. 65

Reflexivity ........................................................................................................ 69

Personal Experience of a Midwife ................................................................. 69

Experience of a Black Nurse .......................................................................... 71

9. Recommendations .................................................................................................. 72

viii

Implicit Bias ..................................................................................................... 72

Increase Funding for Sickle Cell Disease Research ..................................... 73

Improve Sickle Cell Disease Health Education ............................................ 74

Hidden Curriculum ........................................................................................ 75

Informed Choice Discussion and Communication ...................................... 76

Sickle Cell Disease Patient Directed

Health Care Provider Education ................................................................... 77

10. Limitations .............................................................................................................. 78

11. Conclusions ............................................................................................................. 79

12. References ............................................................................................................... 80

13. Appendix A Sickle Cell Search Strategy ......................................................... 88

14 Appendix B Characteristics of Excluded Studies ......................................... 102

15. Appendix C Newborn Screen for Sickle Cell Disease in Canadian ............ 109

16. Appendix D Sickle Cell Trait Disclosure

(countries listed in the studies reviewed) ................................. 110

ix

List of Tables

Table 1. Sickle Cell Disease Variations .............................................................. 19

Table 2. Inclusion and Exclusion Criteria ......................................................... 28

Table 3. Characteristics of Included Studies ..................................................... 31

Table 4. Themes Identified by the Authors of the Studies Reviewed .............. 34

Table 5. Sickle Cell Search Strategy ................................................................... 88

Table 6. Characteristics of Excluded Studies .................................................. 102

Table 7. Newborn Screen for Sickle Cell Disease in Canada ......................... 109

Table 8. Sickle Cell Trait Disclosure (by countries listed in the studies) ...... 110

x

List of Figures

Figure 1. Systematic Literature Search PRISMA Diagram .............................. 30

xi

List of Diagrams

Diagram 1. Prevalence of Sickle Cell Disease Worldwide ..................................... 16

Diagram 2. Inheritance Pattern of Sickle Cell Anaemia

and Sickle Cell Trait.............................................................................. 20

xii

List of Abbreviations

CF Cystic Fibrosis

GPs General Practitioners

HbP Haemoglobinopathies

HbA Normal Haemoglobin

HbS Haemoglobin S (Sickle Haemoglobin)

HSCT Haematopoietic Stem Cell Transplant

MV Meredith Vanstone

NBS Newborn screen

NSAID Non Steroidal Anti-Inflammatory Drug

PCP Primary Care Provider

SC Sickle Cell

SCD Sickle Cell Disease

SCT Sickle Cell Trait

SG Simone Griffith

T Thalassemia

UK United Kingdom

USA United States of America

xiii

Declaration of Academic Achievement

Simone Griffith completed this research work independently, with scholarly guidance

from her supervisor (Dr. Meredith Vanstone) and committee members (Dr. Madeleine

Verhovsek and Dr. Melissa Kimber). She received instrumental support from research

assistants to sort the references for the systematic review and integrative qualitative meta-

synthesis.

M.Sc. Thesis – Simone Griffith McMaster – Health Science Education

14

Introduction

Sickle cell disease (SCD) is an inherited blood disorder that affects millions of

people worldwide (Diagram 1) (1-4). The disease is chronic, lifelong and can be

debilitating. It has the potential to affect virtually every organ system in the body;

potential consequences include - acute chest syndrome (chest pain, cough and fever),

stroke, chronic anaemia, leg ulcers, dactylitis (inflammation of the hands), gallstones,

kidney damage, bacterial infections and early death (1, 2). The disease not only impacts

the quality of life of affected individuals, from frequent hospital admissions to higher

rates of absence from school or work, but also the quality of life of the immediate family

(5). Family caregivers of sickle cell patients often experience job loss, decreased earning

potential and mental and physical fatigue (5).

SCD is the most commonly inherited group of blood disorders (6, 7). Mutations on

the gene encoding the haemoglobin subunit β result in the change of the structure of the

haemoglobin molecule (3, 6, 8). Sickle haemoglobin (HbS) carriers oxygen in the same

way as normal haemoglobin (HbA) but there can be reduced oxygen delivery to tissues

when there is sickle vaso-occlusion (blockage of post-capillary venules, causing reduced

blood flow through the capillary beds) (1, 7, 8). SCD is an autosomal recessive disorder

– affected individuals inherit two copies of the abnormal gene, one from each parent.

Drug therapy and blood transfusions are the treatment of choice to manage SCD.

Haematopoietic stem cell transplantation (stem cells from bone marrow or blood) is the


15

only curative option for SCD, however, it carries a risk of complications such as

infection, graft rejection and death (8, 9). The lack of available matched donors makes

this therapy out of reach for the majority of patients with SCD (9). Gene therapy as a

curative option for SCD is on the horizon – multiple gene therapy strategies are in clinical

trials (9). Eighty to ninety percent of children born with SCD in high income countries

will survive to adulthood, nonetheless, medical complications of SCD often lead to a

shortened lifespan of 54-65 years (10, 11). Without early diagnosis of SCD and

comprehensive medical care, children with SCD in low income countries and Africa may

die before the age of five years (2, 11, 12). SCD is a global public health issue – 75% of

the SCD population live in sub-Saharan Africa where inadequate health infrastructure,

limited access to drug treatment, and poor nutrition leads to a high incidence of morbidity

and mortality (2).

SCT is the carrier state for SCD. A normal haemoglobin gene is inherited from one

parent and a sickle haemoglobin gene in inherited from the other parent (6-8, 11). Most

people are unaware of their SCT carrier status (1, 2). SCT typically presents as a benign

condition, however, venous thromboembolism (blood clots) and renal complications can

occur at higher rates, and other complications can occur under periods of extreme

exercise in affected individuals (13, 14).

It is believed that 3,000 to 5,000 people in Canada have SCD (4). SCD is most

prevalent in people of Black African, South Asian, Mediterranean (Italian, Greek,

Turkish), and Middle Eastern descent – regions endemic for malaria (11).


16

Diagram 1. Prevalence of Sickle Cell Disease Worldwide

As the demographic of the population of Canada continues to become more ethnically

and racially diverse, the incidence of SCD will continue to increase, as will the burden on

the Canadian healthcare system (16). Aside from a set of national consensus

recommendations for the care of patients with SCD in Canada (4), no nationally based

strategies, policies or registries exist for guidance on the management of SCD in Canada

(16). Health care providers, educational institutions and researchers are left to create

policies and research at their discretion.

For many parents, the diagnosis of their child’s SCD or sickle cell carrier status

through newborn screen (NBS), will also act as the first diagnosis, albeit indirect, of their

own sickle cell carrier status (17, 18). Research literature reveals that while many people

at risk for SCD may be familiar with the disease, 25% – 50% of them will be unaware of

Not Alone in Sickle Cell (15)


17

their own sickle cell carrier status (19-23). The psychological and physical demands of

caring for a child with SCD can be devastating – from upheaval of the family dynamics,

parental exhaustion of balancing multiple hospital admissions and medical appointments

to financial challenges associated with absences from their job (5). There is value in

understanding parents’ lived experience with SCD and SCT given their important role in

the identification, management and access to treatments for SCD and SCT for their

children, respectively.

This systematic review and integrative qualitative meta-synthesis aims to

consolidate what is known of SCD and SCT from the perspective of parents, it will also

generate recommendations on aspects of the health care system that function well and

those that do not function well and identify any gaps that exist. Information generated by

this review will be helpful in contributing to the development or enhancement of

guidelines and protocols in SCD and SCT management for health care providers and

health care educators.

Clinical Background

Research has shown that while people may be familiar with term SCD they are not

familiar with the details of the disease (19). Rudimentary information on SCD is

provided to enhance the reader’s ability to appreciate the complexity of the SCD and

dispel misconceptions of the disease.


18

Etiology of Sickle Cell Disease

SCD is an inherited disease of the blood affecting the formation of haemoglobin.

Haemoglobin is a protein in the blood that carries oxygen from the lungs to rest of the

body (1, 6, 11). A single point mutation on the sixth codon of the beta-globin chain on

chromosome 11, causes a permanent change of the haemoglobin structure, creating a new

and abnormal haemoglobin gene (designated haemoglobin S - HbS). Mutations can also

occur in different locations of the alpha globin and beta globin chain, which causes the

creation of different or variant forms of haemoglobin genes (1, 6, 11).

Types of Sickle Cell Disease

Sickle cell disease: results from the inheritance of two abnormal haemoglobin genes

(Diagram 2). Any combination of one abnormal haemoglobin S gene paired with another

variant (abnormal) haemoglobin gene results in SCD. Sickle cell anaemia, the most

prevalent and well known type of SCD, results from the inheritance of two abnormal

haemoglobin S genes (3, 7, 12). Other SCD variants are described in Table 1.

Sickle cell trait: is characterized by the inheritance of one normal haemoglobin

gene and one abnormal haemoglobin S gene (Table 1.) (1, 3, 6, 11). SCT is typically an

asymptomatic and benign condition, however, in rare instances and under extreme

conditions, such as excessive exercise, people affected with SCT can experience health

concerns (13, 14). It is not uncommon for people affected with SCT to be unaware of


19

their carrier status. Furthermore, there remains confusion or misunderstanding of the

genetic significance of SCD among people who know they are sickle cell carriers (13,

20). These potential parents may then be surprised to have a child affected with SCD (13,

20).

Table 1. Sickle Cell Disease Variations

Sickle Cell Disease Haemoglobin

Variants

Prevalence Disease

Manifestation

Sickle Cell Anaemia HbSS Most common

form of sickle cell

disease

Severe symptoms

Sickle Cell Beta

Thalassemia +

HbSβ+ Less common Less severe

symptoms than

sickle cell anaemia

Sickle Cell Beta-zero

Thalassemia 0

HbSβ0 Less common Severe symptoms

Sickle Cell C HbSC Less common Less severe

symptoms than

sickle cell anaemia

Sickle Cell D HbSD Rare Rare, almost no

symptoms

Sickle Cell E HbSE Rare Rare, almost no

symptoms

Sickle Cell Arab HbSO Rare Rare, almost no

symptoms

Ware et al (2017) (8)


20

Diagram 2. Inheritance Pattern of Sickle Cell Anaemia and Sickle Cell Trait

Inheritance Pattern of Sickle Cell Disease

If both parents have SCD, all their children will also have SCD.

If both parents have SCT, in each conception there is a 25% chance that their child will have

SCD.

If both parents have SCT, in each conception there is 50% chance that their child will have

SCT.

If both parents have SCT, in each conception there is a 25% chance that their child will have

normal haemoglobin.

If one parent has SCT and one parent has SCD, in each conception there is a 50% that their

child will have SCD.

If one parent has SCT and one parent has SCD, in each conception there is a 50% that their

child will have SCT (if the SCD consists of a haemoglobin S gene and a variant haemoglobin

gene, in each conception there is a 25% chance their child will have SCT and a 25% chance

their child will have a haemoglobin variant trait).

If one parent has SCT and one parent has normal haemoglobin, in each conception there is a

50% chance that their child will have normal haemoglobin.

If one parent has SCT and one parent has normal haemoglobin, in each conception there is a

50% chance that their child will have SCT (1, 6).

Microsoft Library


21

Sequelae of Sickle Cell Disease

Normal red blood cells are flexible, round in shape and travel easily through blood

vessels (squeezing and changing shape) as they transport oxygen through the body (3, 6).

Conditions of deoxygenation (oxygen molecules detach from the haemoglobin molecule)

typically have no significant affect on normal haemoglobin molecules. However,

deoxygenation of abnormal haemoglobin S molecules causes them to link together,

leading to a change in the shape of the red blood cell (they assume a sickle shape, denoted

by the notation of HbS) (1, 2, 7). The abnormal HbS red blood cells experience an

episode of sickling. Sickled shaped red blood cells transport fewer oxygen molecules, are

more fragile, rigid and less flexible and become jammed in the blood vessels because they

cannot flow through blood vessels easily. Episodes of sickling deprive organs of vital

oxygen which leads to periods of pain that are often termed pain crises. Repeated cycles

of sickling, shorten the lifespan of the fragile sickle cell red blood cell to an average of 17

days versus 90 days for a normal red blood cell (1, 2, 7).

Chronic anaemia, fatigue, lethargy and frequent pain crises are the hallmark

symptoms of SCD (6-8). Every organ system is subject to injury and permanent damage

in SCD. The severity of symptoms and damage to organs in SCD is largely dependent

upon the type of variant haemoglobin gene(s) inherited.


22

Lifespan, Treatment and Cure

Lifespan

The quality of life and life expectancy of people affected with SCD vary widely

depending on country of birth, age of diagnosis, age at initiation of drug treatment, and

access to care (1, 11, 24). In high income countries, more than 90% of infants born with

SCD will survive to adulthood. Early diagnosis of SCD by NBS and greater access to

drug therapy and comprehensive medical care, reduce the incidence of childhood

morbidity and mortality (2, 11, 24). Clinical manifestations of SCD can vary from person

to person and within the types SCD (6). Some patients will experience many symptoms

while other patients will experience few symptoms over their lifetime (6). Adherence to

prophylactic drug regimens and vaccination schedules, and general health routines affect

the quality of life and life span of SCD patients. However, the lifespan of people affected

with SCD is generally reduced by 15 to 24 years as compared to people not affected with

SCD (25).

Infants born in low income or low resource countries, as in African countries, where

NBS is not routine and there is limited access to drug treatment, or low resources of drug

treatment early in life, may only have a 10%-50% survival rate to the age of five years

(12, 24). Low rates of early detection in infancy and early childhood and limited access

to prophylactic penicillin and hydroxyurea, limit the lifespan to 15-20 years for children

who survive beyond the age of five years in low income countries (11, 12).


23

Treatment

• Prophylactic penicillin (preventative), initiated by three months of age, is used

for management of SCD in children and reduces the frequency of infections.

• Hydroxyurea, is an oral medication that is used to prevent anaemia and reduce

the incidence of pain crises and other acute and chronic complications.

• L-glutamine is an oral powder used to help reduce the frequency of pain crises

• Crizanlizumab is an intravenous drug that is used to help reduce the frequency of

pain crises.

• Morphine is an opioid drug used to help relieve pain. Other opioid and/or

nonsteroidal anti-inflammatory drug (NSAID) analgesics are also among the

available options for pain treatment.

• Voxelotor is an oral drug that is used to improve anaemia.

• Blood transfusions are frequent and commonly used to manage severe and

chronic anaemia associated with the SCD.

Cure

Haematopoietic stem cell transplantation (HSCT): is the only curative treatment

for SCD. It is expensive, with a risk of toxicity, and health concerns post transplant,

including early death. HSCT is often reserved for cases in which repeated blood

transfusions are no longer feasible (4, 6). Periods of sickling can lead to progressive

organ and tissue damage as SCD patients age. Organ dysfunction can increase risks of


24

organ toxicity, morbidity and transplant-related mortality exponentially and for this

reason, HSCT is often reserved for children younger than 17 years (4, 6).

Gene therapy: is a relatively new curative option in the clinical trial phase (9).

Screening and Diagnosis of Sickle Cell Disease and Sickle Cell Trait

Screening for SCD can be offered to women and men pre-maritally, pre-conception,

and antenatally. The United Kingdom (UK) offers universal antenatal screening for SCD

for women at risk for SCD (26, 27). Antenatal screening for SCD in Canada, the USA,

and the Netherlands is offered at the discretion of the health care provider (26). Infants

can be screened via the NBS within a few days of birth. In other instances, infants may

not be offered screening or diagnosis for SCD until symptoms manifest.

Haemoglobin electrophoresis: a blood test used to identify normal and abnormal

haemoglobins. This test is able to diagnose all forms of SCD and SCT (8).

Sickle cell solubility test (commonly called SICKLEDEX®): a blood test used to

identify the presence of haemoglobin S. The test is unable to detect other abnormal

haemoglobins and can only be used as a screening tool (8). Further diagnostic tests need

to be run when haemoglobin S is identified. The absence of haemoglobin S can be used

to exclude SCD or SCT only. This test is not reliable in the neonatal period.

Newborn screen: a blood test used on newborn infants to assess the probable

presence of disorders (genetic, metabolic, blood or hormone related) that may not be


25

apparent immediately after birth. The disorders that can be screened are not uniform and

vary by jurisdiction. Canada does not have a national universal newborn screening

program – each province and territory operates its own newborn screening program.

Currently only eight provinces and one territory offer universal screening for SCD

(Alberta, British Columbia, New Brunswick, Newfoundland and Labrador, Nova Scotia,

Ontario, Prince Edward Island, Quebec and the Yukon) (28).

Genetic counseling for pre-marital or pre-conception: can be offered to couples if

each parent carries one sickle cell gene. These couples have a one in four chance of baby

with SCD (Diagram 2). A genetic counselor may enquire of the family history of each

couple and offer pre-implantation screening of embryos, which can identify embryos that

may carry SCD or SCT.

Genetic counseling during the antenatal period: can be offered to parents when

each parent screens positive for the sickle cell gene during pregnancy. Prenatal diagnosis

for the fetus (unborn baby) can be offered in early pregnancy to determine whether the

fetus has SCD.

• Chorionic villus sampling: is performed between 10 and 12 weeks of pregnancy

and involves obtaining a sample of the placental tissue (8).

o The procedure can be performed transcervical – a catheter is inserted through

the cervix into the placenta to obtain tissue.

o The procedure can be performed transabdominal - a needle is inserted

through the abdomen and the uterus into the placenta to obtain tissue


26

• Amniocentesis: is performed between 15 and 20 weeks of pregnancy and

involves the insertion of a thin needle through the abdomen and the uterus into

the amniotic fluid to obtain a small sample of amniotic fluid.

Chorionic villus sampling and amniocentesis carry a risk of infection, miscarriage,

preterm labour and limb defects.

Author’s Professional Experience with Sickle Cell Disease Screening

In my practice as a midwife, I have chosen to offer antenatal screening for

haemoglobinopathies, which encompasses SCD, to all my clients irrespective of their

ethnicity as anyone of any ethnicity can have SCT (6). I also have encouraged all my

colleagues to offer haemoglobinopathy screening to all their clients. The midwifery

profession is prefaced on the belief of empowering and supporting women during

pregnancy and I believe I have an opportunity and obligation to educate all my clients

about SCD. While I have not maintained accurate statics, during 17 years of midwifery

practice, the vast majority of my clients and their partners have either never heard of SCD

or they are familiar with SCD, but unaware of their sickle cell carrier status. Through this

screening practice, many of my clients have learned of their sickle cell or thalassemia

carrier status for the first time. It is important to be aware that the sickle solubility test is

the only test that can be ordered within a midwife’s scope of practice in Ontario. Only

one diagnostic laboratory processes haemoglobin electrophoresis tests ordered by

midwives.


27

Method

Methodology

This systematic review and integrative qualitative meta-synthesis uses Sandelowski

and Barosso’s methodology (29). Integrative qualitative meta-synthesis is also known as

qualitative research integration. It aims to summarize the findings of multiple studies

with two aims: first, this technique aggregates results to reflect the range of findings

across studies while still retaining original meaning. Second, it produces a new

integrative interpretation by comparing and contrasting findings across studies.

Integrative qualitative meta-synthesis is the appropriate synthesis methodology for

the current project because it balances description and interpretation, focusing on

understanding what has been said about a topic and offering new understanding by

looking at the cumulative evidence. This approach is more consistent with systematic

review methodology than many other qualitative synthesis approaches because it allows a

priori definition of the research question and search strategy, as opposed to using a

progressively iterating research question with a more flexible search strategy (29). This

methodology focuses on the synthesis of qualitative findings, which is congruent with my

exploratory research question about experiences.


28

Study Design

This systematic review and integrative qualitative meta-synthesis answers the

research question - What are parents' experiences with sickle cell disease screening and

diagnosis?

Table 2. Inclusion and Exclusion Criteria

Search terms were developed based on truncations of the words sickle cell, sickle

cell trait, anaemia, and combined with a validated search mega-filter developed and

validated to identify qualitative research (30) (Appendix A). Wild card and Boolean

Search Operators were used to capture the most relevant studies. A total of seven

databases were searched, which included OVID Medline Epub Ahead of Print, In-Process

& Other Non-Indexed Citations, Ovid MEDLINE® Daily and Ovid MEDLINE® 1946 to

Present, Embase (1974-2019), PsychINFO, AMED, OVID Emcare, and CINAHL. The

Inclusion

Exclusion

English language, full text articles

Published, peer reviewed, research

Primary qualitative empirical research (using any

descriptive or interpretive qualitative methodology,

including the qualitative component of mixed-

methodology)

Studies involving the experiences or perspectives of

people who have sickle cell disease or trait and/or

their parents

Studies published after 2006

Quantitative

Not empirical

Not English

Not patient or parent

perspective

Not peer reviewed

Not primary

Not sickle cell

Animal study

No abstract

Plant Study

Relevant but not eligible

Sickle cell is secondary focus

Studies published before 2006


29

search process began 2019 June 18 and was complete 2019 June 28. No date limits were

applied. Backward citation chaining of the included studies supplemented the database

searches.

Article screening was completed in duplicate independently by SG and research

assistants, who resolved disagreements through discussion. Eligible articles included

English-language primary qualitative research studies addressing the experiences of

parents or intended parents relevant to screening and diagnosis of SCD or SCT (Table 2).

Data Extraction

Each study was carefully reviewed and the country of origin, number of

participants, and study design was recorded in an excel spreadsheet. Themes identified

in the original study that represented the experiences of the participants were extracted

and analyzed using the process detailed below.

Data Analysis

Following the analytic instructions of qualitative meta-synthesis (29), we aimed for

findings which produced both a comprehensive summary of the original study articles, as

well as an interpretation of the meaning of this information from the perspective of

parents. This was achieved through multiple rounds of coding, following an adapted

version of the staged coding process of Grounded Theory (31). First, descriptive codes

were used to summarize key points in each article. Next, codes were gathered together


30

with similar ideas into categories. The third stage of coding involved the application of

interpretative ideas, another pass through the data to recognize relevant data excerpts, and

then a re-combination of the categories. Analysis was led by SG, who discussed

emerging analytic ideas with MV.

Figure 1. Systematic Literature Search PRISMA Diagram

12,615 references retrieved through

database searching

6,994 references after duplicates removed

(134 additional duplicates removed)

203 primary eligible qualitative research

87 mixed methods

43 grey

333 potentially relevant to research

43 eligible studies

Title/abstract review (full text review if

necessary) of articles to assess eligibility

[6661 removed] (exclusion category; i.e. not

primary, not sickle cell, etc)

Title/Abstract screening for exclusion criteria

5463 (Quantitative)

249 (Not empirical)

7 (Not English)

108 (Not patient or parent perspective)

53 (Not peer reviewed)

236 (Not primary)

193 (Not sickle cell)

67 (Animal study)

4 (No abstract)

5 (Plant study)

33 (Relevant but not eligible)

109 (Sickle cell is secondary focus)

Total excluded: 6661

Full text screening for relevance to [RQ]

[290 removed] (exclusion category; i.e. not

primary, not sickle cell, etc)

13 included - hand search

of references

14 studies included


31

Table 3. Characteristics of Included Studies

Author(s) Title Country Topic Style Participants

Biwott, P.J. et

al (2017)

Disclosure of

Sickle Cell Disease

Results to

Parents/Guardians

Participating In a

Research at a

Hemato-Oncology

Clinic in Eldoret

Kenya

Kenya Screening

of children

Interviews

and

questionnaire

46 parents,

guardians,

health care

providers

Bruce, A.A.,

et al. (2018)

A complex

interface: Exploring

sickle cell disease

from a parent's

perspective, after

moving from Sub-

Saharan Africa to

North America.

Canada Screening

of children

Interviews 12 parents

Chudleigh, J.,

et al. (2016)

Parents'

Experiences of

Receiving the

Initial Positive

Newborn Screening

(NBS) Result for

Cystic Fibrosis and

Sickle Cell Disease

UK Newborn

screening


Collins, J. L.,

et al. (2013)

Factors that

influence parents'

experiences with

results disclosure

after newborn

screening identifies

genetic carrier

status for cystic

fibrosis or sickle

cell

hemoglobinopathy

USA Newborn

screening

Interview

and

questionnaire

270 parents

Inclusion

Exclusion

English language, full text articles

Published, peer reviewed, research

Primary qualitative empirical research (using any

descriptive or interpretive qualitative methodology,

including the qualitative component of mixed-

methodology)

Studies involving the experiences or perspectives of people

who have sickle cell disease or trait and/or their parents

Studies published after 2006

Not empirical

Not English

Animal Studies

Not patient or parent perspective

Not peer reviewed

Not primary

Not sickle cell

No abstract

Plant Study

Quantitative

Relevant but not eligible

Sickle cell is secondary focus

Studies published before 2006


32

Table 3. cont. Characteristics of Included Studies


Holtkamp,

K.C.A, et al.

(2018)

Experiences of a

High-Risk

Population with

Prenatal

Hemoglobinopathy

Carrier Screening

in a Primary Care

Setting: a

Qualitative Study

Netherlands Antenatal

screening

Interviews 26

expectant

women

La Pean, A., et

al. (2012)

A qualitative

secondary

evaluation of

statewide follow-up

interviews for

abnormal newborn

screening results

for cystic fibrosis

and sickle cell

hemoglobinopathy

USA Newborn

screening


Lebensburger,

J.D., et al.

(2015)

Understanding and

improving health

education among

first-time parents of

infants with sickle

cell anemia in

Alabama: A mixed

methods approach

USA Newborn

screening

Interviews

and

questionnaire

8 parents

Locock, L.

and Kai, J.

(2008)

Parents'

experiences of

universal screening

for haemoglobin

disorders:

implications for

practice in a new

genetics era

UK Antenatal

and

newborn

screening

Interviews

39 parents

Miller, F.A.,

et al. (2010)

Understanding

sickle cell carrier

status identified

through newborn

screening: a

qualitative study

Canada Newborn

screening

Interviews 6 parents, 8

community

based

advocates,

42 health

care

providers


33

Table 3. cont. Characteristics of Included Studies


Reed, K.

(2009)

'It's them faulty

genes again':

women, men, and

the gendered nature

of genetic

responsibility in

prenatal blood

screening

UK Antenatal

screening


Reed, K.

(2011)

'He's the dad isn't

he?' Gender, race

and the politics of

prenatal screening

UK Antenatal

screening

Interviews

and focus

groups

48 parents

Tsianakas, V.,

et al. (2012)

Offering antenatal

sickle cell and

thalassaemia

screening to

pregnant women in

primary care: a

qualitative study of

women's

experiences and

expectations of

participation

UK Antenatal

screening

Interviews 21

expectant

women

Ulph, F., et al.

(2011)

Familial influences

on antenatal and

newborn

haemoglobinopathy

screening

UK Antenatal

and

newborn

screening


Ulph, F., et al.

(2015)

Parents' responses

to receiving sickle

cell or cystic

fibrosis carrier

results for their

child following

newborn screening

UK Newborn

screening



34

Table 4. Themes as identified by the Authors of the Studies Reviewed

Author Title Themes

Biwott, P.J.

et al (2017)

Disclosure of Sickle Cell Disease

Results to Parents / Guardians

Participating In a Research at a

Hemato-Oncology Clinic in Eldoret

Kenya

• How the parent or guardian found

out about the illness

• Communication process

• The person communicating sickle

cell disease information

• Expectations on the results

• Perception of health care providers

on the disclosure process

• Adequacy of disclosure

• Adequacy of time used during

disclosure

• Feelings after disclosure

• Perception of health care providers

on the adequacy of information

disclosed and psychological impact

• Tests used to screen sickle cell

disease

• Ethics of the disclosure

Bruce, A.A.,

et al. (2018)

A complex interface: Exploring sickle

cell disease from a parent's

perspective, after moving from Sub-

Saharan Africa to North America.

• Parents recalling cases about SCD in

their communities in Africa

• Shock

• Acceptance

• Thinking about the future

• Self-reliance

• Guarded trust

Chudleigh,

J., et al.

(2016)

Parents' Experiences of Receiving the

Initial Positive Newborn Screening

(NBS) Result for Cystic Fibrosis and

Sickle Cell Disease

• Prior knowledge of the condition

(CF and SCD) and NBS

• Receiving the initial positive NBS

result

• Reactions to the positive NBS result

• Impact of the screening process on

parental relationships

• Future support strategies


35

Table 4 cont. Themes as identified by the Authors of the Studies Reviewed

Author(s) Title Themes

Collins, J. L., et

al. (2013)

Factors that influence parents'

experiences with results disclosure

after newborn screening identifies

genetic carrier status for cystic

fibrosis or sickle cell

hemoglobinopathy

• Specific content messages that

influenced parents’ experiences

• PCP traits that influenced parents’

experiences and reactions

• Aspects of the setting that

influenced parents

• Positive and negative reactions

reported by parents

• Associations between factors and

reactions

Holtkamp,

K.C.A, et al.

(2018)

Experiences of a High-Risk

Population with Prenatal

Hemoglobinopathy Carrier

Screening in a Primary Care Setting:

a Qualitative Study

• Familiarity with HbP’s and carrier

screening

• HbP carrier screening: reasons to

accept or decline testing

• multistep process of decision

making

• perceived information overload

during counseling

La Pean, A., et

al. (2012)

A qualitative secondary evaluation

of statewide follow-up interviews for

abnormal newborn screening results

for cystic fibrosis and sickle cell

hemoglobinopathy

• Parents’ opinions about the

Project’s follow-up interview

• Reasons why parents found the


beneficial

• Parents’ emotional reactions to the


Lebensburger,

J.D., et al.

(2015)

Understanding and Improving Health

Education among First-Time Parents

of Infants With Sickle Cell Anemia

in Alabama: A Mixed Methods

Approach

• Parental fear of sickle cell anemia

and trust in sources of health

information

• Trust in sources of health

information

Locock, L. and

Kai, J. (2008)

Parents' experiences of universal

screening for haemoglobin disorders:

implications for practice in a new

genetics era

• Being informed about screening

• Timing of screening tests

• Understanding carrier status and

genetic risk

• Communication of carrier results

and advice about options

• Religious influences on individual

decision making


36

Table 4 cont. Themes as identified by the Authors of the Studies Reviewed

Author(s) Title Themes

Miller, FA., et

al. (2010)

Understanding sickle cell carrier

status identified through newborn

screening: A qualitative study

• Uncertainty

• Dissonant claims of clinical

significance

• Health-care providers’ equivocation

Reed, K. (2009) 'It's them faulty genes again':

women, men and the gendered

nature of genetic responsibility in

prenatal blood screening

• Women and ‘embodied’

responsibility

• ‘It’s them faulty genes again’:

women and accountability

Reed, K. (2011) 'He's the dad isn't he?' Gender, race

and the politics of prenatal screening

• ‘He’s the dad isn’t he?’ BME men

and the positive result

• Whiteness, and men’s participation

• Ethnicity, men and screening

professionals

Tsianakas, V.,

et al. (2012)

Offering antenatal sickle cell and

thalassaemia screening to pregnant

women in primary care: a qualitative

study of women's experiences and

expectations of participation

• The perceived benefits of early

screening

• Satisfaction and expectations of

being involved in decision making

• The need for information

Ulph, F., et al.

(2011)

Familial influences on antenatal and

newborn haemoglobinopathy

screening

• Family providing knowledge base

• Family involvement in decisions

• The control of information within

families

• Intergenerational control

• Facilitating the messengers

Ulph, F., et al.

(2015)

Parents' responses to receiving sickle

cell or cystic fibrosis carrier results

for their child following newborn

screening

• Impact of knowing carrier results

• Effect of process of communication

• Considering ‘cascade’ testing

within the family

• Sharing carrier information with

extended family


37

Results

Fourteen studies were reviewed for this paper, of which only three focused

exclusively on SCD or SCT (32-34). Of the remaining 11 studies, it was not always

possible to accurately discern whether the participants’ comments related to experiences

with screening for SCD, cystic fibrosis (CF) or thalassemia. By combining all these

conditions, important nuances related to experiences of particular conditions (e.g., impact

of race or stigma of an invisible chronic pain condition) may have been missed by the

original researchers. Given that the current work was a secondary analysis, it was not

possible to re-design the studies and so the current findings are limited by these existing

design features.

From an initial body of 12, 615 references, the full text of 43 articles were

reviewed. Thirteen eligible studies were identified (Figure 1). The reference section of

each of the included studies (n=13) was hand searched. One additional study resulted

from this process, for a total of 14 included studies.

Of the 14 studies analysed for this systematic review and integrative qualitative

meta-synthesis, six focused on antenatal screening for SCT, four studies focused on SCT

diagnosis from the NBS and four studies focused on SCD diagnosis from the NBS. There

were no studies addressing the opportunity for screening before an individual reached

reproductive age, married, or planning to conceive a pregnancy.

These 14 studies were conducted in Africa (n=1), Canada (n=2), the Netherlands

(n=1), the UK (n=7) and the USA (n=3) and used a variety of methodologies including


38

grounded theory and focused ethnographies. A total of 876 participants were included

across the studies - 766 women, 108 men and two participants of unspecified gender.

Women constituted 87% of the study population. The participants in the study were

described by the authors as: Black, Black-Caribbean, Black African, White, Asian,

Latino, Middle Eastern, Chinese, and Mixed-race ethnicities. The terms SCD, SCT,

haemoglobinopathy and haemoglobinopathies were used variably in the studies - a

reflection of the topic addressed in different studies – and these terms are reflected in the

results section of this paper.

The UK employs universal antenatal screening of women at risk for SCD or any

haemoglobinopathy, whereas in Canada, the Netherlands and the USA, antenatal

screening is performed at the discretion of the health care provider (26, 27). Conversely,

the UK offers newborn screening as a choice, while eight Canadian provinces and one

territory, the Netherlands and the USA employ universal NBS to detect SCD (26-28). No

formal SCD screening systems exist in Africa, although pilot studies for SCD screening

have been conducted in several African countries (35).

SCD screening of adults serves the purpose of detecting the sickle cell gene

affording prospective parents the opportunity for pre-conception planning, prenatal

diagnosis or termination of a pregnancy should the fetus have SCD or SCT. The primary

purpose of the NBS is the identification of infants who have SCD. SCT detection from

the NBS is an incidental finding (23, 34). The results have been divided into the themes -

screening for SCT antenatally, and SCD and SCT screening post delivery (via the NBS)

to capture the differences in parents’ experiences with SCD screening.


39

Antenatal Screening for Sickle Cell Disease (Haemoglobinopathy)

Analysis of the studies revealed that experiences of screening for SCD

(haemoglobinopathies) related to six themes: informed choice to screen and reasons to

accept SCD (haemoglobinopathy) screening, awareness and education of SCD or SCT,

timing of SCD (haemoglobinopathy) screening and planning of pregnancy and

termination of pregnancy, responsibility for SCD (haemoglobinopathy) screening, family

influence on SCD (haemoglobinopathy) screening and the role of religion in SCD

(haemoglobinopathy) screening.

Informed Choice to Screen and Reasons to Accept Sickle Cell Disease

(Haemoglobinopathy) Screening

Women’s reasons for accepting screening varied. Most women in the studies

accepted screening when it was offered to them and expressed satisfaction with their

choice to be screened for SCT or a haemoglobinopathy (26, 27, 36). Some women felt

their doctor provided a clear explanation of the purpose for screening and the significance

of inheritance patterns of SCD and offered them time to accept or decline screening (27,

36); others reported feeling poorly informed of screening options and uncertain of the

risks of SCD (36).

Women who expressed dissatisfaction with the information they received, reported

receiving only a pamphlet or leaflet regarding haemoglobinopathies (36). Tsianakas et al

reported that some women wanted more information from their doctor: “At the initial


40

consultations with their GPs, women were given a leaflet about SC and T [sickle cell and

thalassemia] to take home and read. However, a number of women explained that in

addition to that, GPs should have spent more time explaining the conditions face-to-face.”

(36, pg. 120).

Some women reported they were not offered a choice to screen or felt they were

encouraged or led by their doctor or midwife to accept screening (26, 36). Other women,

although given the choice to screen, felt incapable of making an educated decision, opting

instead to defer to the doctor or midwife “who is the expert” (26, 27, 36). These women

expressed complete trust in the health care provider and deemed them to be more

knowledgeable about SCD.

The ease of the test - one extra blood test added to the standard tests done at the

initial doctor or midwifery antenatal visit - was the impetus for a few women to accept

screening (26). Holtkamp et al found that: “Women argued that screening is performed

simultaneously with other blood tests, and thus entails only one extra sample of blood.”

(26 pg. 639). Along this same line of reasoning, some of the women who agreed to be

screened never gave thought to the consequences of having a positive screen for SCT

(26).

Women for whom English was a second language expressed dissatisfaction,

confusion or misunderstanding with the screening process. One woman’s request for an

interpreter went unfulfilled while another woman complained of lack of educational

literature in her native language (36).


41

Men constituted a small proportion of study participants. Reed reported that many

of the men of colour in her study were familiar with SCD or haemoglobinopathies, all of

whom accepted antenatal screening (38). Only half of the White men accepted screening.

Some of the White men who declined to be screened were surprised they were offered

screening, because they did not think they, as White men, were at risk for a

haemoglobinopathy (38). Holtkamp et al also reported that some of the White men in

their study did not expect the need to be screened (26).

Awareness and Education of Sickle Cell Disease or Sickle Cell Trait

Knowledge or lack thereof and understanding/misunderstanding of SCD risk

factors, as well as related health concerns of the disease were inextricably linked to

women’s choices to accept or decline screening for SCD (haemoglobinopathies). Some

women were aware of SCD or haemoglobinopathies, but they did not understand the

hereditary nature of the disease when they accepted SCD (haemoglobinopathy) screening.

Others, who were aware of SCD and its hereditary consequences, still declined antenatal

screening on the premise the test results would only provide information of their own

sickle cell carrier status and that “carrier screening would not provide certainty about the

condition of their unborn child.” (26, pg. 640). These women deferred to the NBS of the

baby instead (26, 27).

With respect to risk factors, some women thought, mistakenly, that their advanced

age was a risk factor for SCD (haemoglobinopathy) (36).


42

Several women reported they were unfamiliar with SCD or haemoglobinopathies.

Other women suggested they were more aware of Zika disease than SCD suggesting the

healthcare system did not provide enough information about haemoglobinopathies (26).

A few White women were surprised to be offered antenatal screening for SCD

(haemoglobinopathy) (26).

Only a few women declined antenatal screening for SCD (haemoglobinopathy).

Holtkamp et al found that women used lack of family history of a haemoglobinopathy as

a reason to decline screening: “One woman argued that there was no need for

haemoglobinopathy carrier screening as haemoglobinopathies did not run in her family

and that she already has healthy children” (26, pg. 639). Other women chose to decline

screening on the belief they were healthy (26, 27) and other women declined screening on

the basis that their partners had been screened previously and were told that they did not

have a haemoglobinopathy (36).

Timing of Sickle Cell Disease (Haemoglobinopathy) Screening, Planning of Pregnancy

and Termination of Pregnancy

Women overall were happy with the opportunity to be screened, however many

questioned the timing of screening.

Some women reported feeling overwhelmed when SCD (haemoglobinopathy)

screening was offered during the initial antenatal visit for a pregnancy. They reported too


43

much information was provided at one time making it difficult to process screening

options and make a decision at one visit (26). Many of these women were either

unfamiliar with SCD or had not appreciated the hereditary risks or aspects of SCD

(haemoglobinopathies) (26). Women offered suggestions of a separate appointment time

to discuss SCD (haemoglobinopathy) screening as a solution to minimize excessive

information at the first antenatal visit. Yet other women felt capable to process the

information provided to them at the initial antenatal visit for that pregnancy (26, 27).

Tsianakas et al found that some women believed waiting to offer SCD

(haemoglobinopathy) screening during the pregnancy was not ideal: “Some women said

SC&T [sickle cell and thalassemia screening] should be done pre-conceptually in order

for parents to be aware of their carrier status before conceiving.” (36, pg. 119). Many

women suggested that SCD (haemoglobinopathy) screening should be offered pre-

maritally, preconception, prenatally or as early as possible in pregnancy to afford women

or couples the time to make decisions about marriage partners, conception, prenatal

diagnosis or termination of a pregnancy (26, 27, 36).

Responsibility for Sickle Cell Disease (Haemoglobinopathy) Screening

Women reported, in two studies, they felt they bore the majority of the burden of

the choice to screen (36, 37) since “the screening was happening within their body” (37,

pg. 350). They reported feeling a connection to the baby and responsibility for the baby’s

well being (36, 37).


44

Some of the women who were involved in relationships with men who were at risk

for SCD (haemoglobinopathy), found it difficult to persuade their partner to be screened

(27). Locock et al found that: “Some men felt sure they were not carriers because they

were fit and healthy, and told their partners they did not need to be screened.” (27, pg.

164). A complicating factor of partner screening was hesitancy related to fetal paternity

(27); other women declined partner screening on the basis their partner had previous

carrier screening (26).

The men who participated in screening for SCD articulated an increased sense of

responsibility for the well being of their baby as the reason they chose to screen (38).

Family Influence on Sickle Cell Disease (Haemoglobinopathy) Screening

One study focused on the role of family members in the decision process of

antenatal screening (39). One woman deferred decision making to her family stating that

her partner, family and friends discouraged her from screening for SCD (39).

Other women opted to control or limit the influence their family had on screening

by selectively choosing which aspects of the screening process to share with their family.

Some women chose not to disclose they had learned they were at risk for SCD, while

others chose not to disclose they had been screened (39). Many “participants felt that

when information was conveyed to family so was a right to be involved.” (39, pg. 367).


45

Role of Religion in Sickle Cell Disease (Haemoglobinopathy) Screening

Women of strong Christian and Muslim faiths framed reasons to decline or accept

screening around their belief in God. Some women believed that their willingness or need

to accept any child precluded their ability to accept screening. They “described a sense of

resignation to God’s plan.” (27, pg. 165)

On the contrary, other women described the belief that early antenatal screening and

detection could allow for prenatal diagnosis of the baby. Some women of both Christian

and Muslim faiths stated that termination of an affected baby was a possibility provided it

occurred early in the pregnancy (27).

Sickle Cell Trait Diagnosis

Some studies differentiated between screening and diagnosis of SCT. SCT is not a

disease. It results from the inheritance of one normal haemoglobin gene and one sickle

cell gene. Most people with SCT will have no symptoms and may be unaware of they

carry the sickle cell gene (1-3).

Analysis of this group of studies revealed that experiences of disclosure of SCT

results related to seven themes: awareness and education of SCT, disclosure of SCT

results, communication of SCT results, emotional response to SCT diagnosis, sharing of

SCT results and family support, paternity, and cascade testing. Two studies focused on


46

antenatal SCT (haemoglobinopathy) screening and four studies focused on newborn

screening.

Awareness and Education of Sickle Cell Trait

Antenatal screening

Women who screened positive for SCT in pregnancy needed to make follow-up

decisions. For one woman the decision was simple as her partner willingly chose to be

screened (38). Women in another study were unprepared for a positive SCT results

despite willingly accepting antenatal screening for SCD. They were unsure of the

consequence of SCT for them or their unborn baby (36).

Newborn Screening

Several studies described the existence of SCT screening in population based

newborn screening (17, 18, 34, 40). In these studies, it was common for parents to be

unaware of their own sickle cell carrier status prior to the NBS.

The vast majority of families in the studies reviewed were unfamiliar with SCT and

all wanted to learn more about sickle cell carrier status, in particular, information on the

impact sickle cell carrier status would have on the health of their baby (17, 18, 27, 34).

Some parents reported they were not aware their child had been screened for SCD or they

reported they did not understand the purpose of the NBS.


47

Often parents wanted more information on the inheritance pattern of SCT, in

particular, they wanted to know which parent carried the sickle cell gene (18). This was

particularly relevant to parents who did not know they were at risk for SCT, such as a

White couple who were confused by the SCT results of their baby (27).

Some parents misunderstood the role haemoglobin or blood played in SCT. Many

reported hearing that their child had a problem associated with their blood. Parents

interpreted this to mean their baby had bad blood (27).

Disclosure of Sickle Cell Trait Results

Disclosure of SCT detected by newborn screening differed by jurisdiction. SCT

diagnosis is habitually disclosed to parents in the UK and the USA, but not every

province or territory in Canada (17, 18, 27, 34).

All but one parent reported gratitude for knowledge of their child’s sickle cell

carrier status (18, 34, 39). Some parents found identification of sickle cell carrier status a

helpful tool to plan for the child’s future. Parents who did not receive disclosure of sickle

cell carrier status, argued for continued disclosure of sickle cell carrier status (34).


48

Communication of Sickle Cell Trait Results

Parents received SCT (carrier) results by letter, phone call or in person. A few

parents reported they had not received any results and others had no recollection of being

informed that their baby was being screened for SCD (27).

Almost all parents preferred to receive positive SCT results in person, by a

practitioner who had knowledge of SCD and SCT, and preferably known to them (18, 27,

34). They emphasized the importance of being able to speak directly with a health care

provider about the meaning and implication of results and for this reason they preferred

not to receive results via the telephone, or voicemail and on Fridays. They reported

messages left on a Friday provided little opportunity to speak with a health care provider

before the week ended. Some parents reported receiving a letter alerting them of the need

to call their doctor for disclosure of the SCT test results. None of these parents reported

liking this method of results disclosure (27).

Parents reported they had greater understanding of SCT when health care providers

were patient, used non-medical terms and took time to explain in detail SCT and the

implications of sickle cell carrier status. Several parents also reported additional written

material enhanced their comprehension of SCT (18, 39).


49

Emotional Response to Sickle Cell Trait Diagnosis

Parents experienced a range of emotions when first learning of their child’s SCT

diagnosis. The detail provided to parents and the manner in which their health care

provider delivered test results contributed to a parent’s positive or negative emotional

state (40). Even parents who reported good understanding of SCT or parents who had

personal experience of SCT experienced negative emotional response upon learning their

child had SCT (34); emotional responses included shock, surprise, sadness, and anxiety

(17, 39). Many parents reported feeling scared and worried for their child’s future and

health; this was the case even if parents were made aware that SCT is considered benign

(39). Other parents reported feeling reassured, calm, relieved, confident, and comfortable

after their health care provider carefully explained the details of SCT, which emphasizes

the important role health care providers have in providing information to contextualize

test results (27).

Sharing of Sickle Cell Trait Results and Family Support

Parents’ decision to share the SCT results for their baby seemed to be linked to their

own experience with SCD or family history of SCD (39). Families for whom SCD or

SCT had evoked negative experiences, criticism, or pity, seemed less willing to openly

share their child’s sickle cell carrier status (39). This pattern was more common in

families of African descent or African immigrants. Parents reported a desire to avoid

negative comments, pity, or shunning behaviour (39).


50

Some families found that SCT information was too difficult to explain to family

members (39). Others preferred to remain secretive and one woman was very upset when

she learned that her SCT results had been shared with her sister without her consent (39).

The need for secrecy was not expressed by all parents. Some parents believed it

important to share the SCT results while others had no concern regarding informing

family members of their child’s results (27, 40). Families who had positive experiences

with sharing the results of their baby’s screen were also more likely to receive emotional

family support (39). Sometimes the parents turned to their families for support when they

first received the SCT results (39).

Paternity

It is not uncommon for many people to be unaware of their own sickle cell carrier

status and issues of paternity were more common when the SCT diagnosis was

unexpected. A White mother expressed gratitude that her White husband did not question

the paternity of their child upon learning that her child had SCT. She stated she associated

SCT as a disease that affects the Black race (27).

Cascade Testing

Upon learning of their child’s sickle cell carrier status, some parents expressed a

desire to know their own sickle cell carrier status and that of their other children (40).


51

This pattern of one diagnosis leading to many other tests is referred by Ulph et al as

“cascade testing” (40). Some parents expressed frustration and worry when they were

unable to have immediate family members tested. Yet other families reported that conflict

arose between families when other relatives chose not to pursue their own sickle cell

carrier status (40).

Sickle Cell Disease Diagnosis

Some studies focused on the diagnosis of SCD, rather than SCT (32, 33, 41, 42).

Analysis of the studies revealed that experiences of disclosure of SCD results related to

six themes: awareness and education of SCD, communication of SCD results, emotional

response to SCD diagnosis, child’s future, implication for future pregnancy planning and

parental relationship, and sharing SCD diagnosis and support. In North America children

who have SCD are most likely to be identified at birth. It is not uncommon, however, for

many African children to be identified in early childhood. Two studies were based on

NBS results, one study was based on SCD screening of children in Kenya, and one study

was based on SCD screening of children who had immigrated to Canada from sub-

Saharan African countries.

Awareness and Education of Sickle Cell Disease

Many of the parents who lived in African or had recently immigrated to Canada

from Africa had witnessed children with symptoms characteristic of SCD. It is not


52

uncommon for children living in Africa to be misdiagnosed with malaria. Most of these

parents did not anticipate a positive SCD diagnosis (32, 33). Some parents reported they

were not aware their child had been screened or reported they did not understand the

purpose of the NBS.

Many of the parents knew of family members or friends who had SCD. However, a

few parents had no prior experience with SCD (41, 42). Most parents were unaware of

their own sickle cell carrier status (32, 33).

All the parents expressed a desire to learn more information about SCD and the

inheritance pattern of SCD. Some parents reported their health care provider was very

informative of SCD and provided additional literature which they found helpful (42).

Other parents reported relying on the internet, books or pamphlets to fill the gap left by

health care providers (42).

Communication of Sickle Cell Disease Results

Many of the parents received results in person by a doctor or health care provider

(32, 33), while some parents received a letter informing them a health care provider

would deliver the newborn screen results in person at their home. Parents reported a

preference for in person disclosure of SCD diagnosis.

Parents also reported that some doctors or health care providers appeared rushed,

had too many patients or had busy clinics that did not afford the time required to discuss


53

the SCD results in detail (32). The parents in this group did not feel they had the

opportunity to ask questions or learn enough about SCD. Some of these parents reported

relying on family, friends or the internet to learn more about SCD when they perceived

the doctors did not answer their questions (42).

Other parents also revealed lack of privacy or confidentiality during the disclosure

process (32).

Emotional Response to Sickle Cell Disease Diagnosis

Almost all parents expressed profound reactions to the SCD diagnosis. Most parents

expressed surprise and shock despite witnessing many unwell children in their hometown

or village (32, 33). The results were at variance with their expectations (32).

Emotions expressed by many parents ranged from shock, disbelief, sadness, anger,

and devastation to fear, guilt, blame and regret (32, 33, 41, 42). Many parents expressed

difficulty reconciling their child’s diagnosis and some expressed regret for having a child

(41).

Child’s Future

All parents reported feeling consumed with worry for their child’s future. Many

wanted to know how to recognize when their child was ill or in pain, other parents

worried they would not know how to take care of their child and many were fearful their


54

child would die young (32, 33, 41, 42). Parents also expressed concern their child would

not find a partner as an adult.

Parents who had family members with SCD reflected on their memories of

relatives’ experiences of being labeled a drug addict or drug seeker when they sought

morphine treatment to manage painful sickle cell crises (32).

Implication for Future Pregnancy Planning and Parental Relationships

Parents expressed regret for not knowing their own sickle cell carrier status. They

reflected that prior knowledge (pre-marital or preconception) of their sickle cell carrier

status would likely have influenced their choice of partner or provided more options for

pregnancy planning and prenatal diagnosis (32, 41, 42).

Other parents contemplated the option of not staying with their partner or choosing

not to have more children (33).

Sharing Sickle Cell Disease Diagnosis and Support

Parents often chose not to disclose their child’s SCD diagnosis to family or friends.

Many parents expressed fear their child would be treated differently than other children

(33, 41). They also anticipated being shunned or pitied. Parents stated they did not want

friends and family speaking poorly of them in their absence. Many parents desired for

their children to be treated the same as children who did not have SCD (33, 41).


55

Parents’ choice to remain secretive regarding their child’s diagnosis ultimately

created a feeling of isolation and lack of support (32). Some parents reported that they

trusted only their health care provider and one or two close family members (32).

It is clear from the results that study participants would have benefited from prior

knowledge of their own sickle cell carrier status.

Discussion

This systematic review and integrative qualitative meta-synthesis described the

perspective of parents’ experiences with SCD screening and diagnosis. The predominant

themes from the 14 studies reviewed were; awareness and education of SCD or SCT,

informed choice, communication between health care provider and parents, emotional

impact of a positive diagnosis of SCD or SCT, and stigma and shame.

Across all of the studies reviewed, it was apparent that many of the parents were

unfamiliar with SCD or SCT, and of the parents who knew of SCD or SCT, only a

handful were aware of their own sickle cell carrier status. Futhermore, there was general

misunderstanding of the health implications of SCD and SCT or that SCD and SCT are

inherited, not communicable diseases (26, 27, 36, 40, 41, 42). While most parents

accepted the offer to be screened for SCD or SCT, it was evident that not all parents

perceived they had a choice to decline screening (27). Additionally, of the parents whose

infants screened positive for SCD or SCT from the NBS, most failed to recall any

discussion or offer of the NBS (26, 27, 36, 40, 41, 42).


56

Communication between health care providers and parents was a very important

theme in all fourteen studies during the antenatal SCD screening process or disclosure of

positive SCD or SCT results. Consistently in all of the studies, parents who perceived

their health care provider as informative, thorough and clear, either during the screening

process or disclosure of positive SCD or SCT results, overall reported more positive

experiences (17, 18, 26, 27, 41, 42). Conversly parents who perceived their health care

provider as uninformative, or unclear or not helpful during the SCD screening process

and disclosure of results, reported more negative experiences, particularly when screening

results were positive for SCD or SCT (17, 18, 26, 27, 41, 42).

Almost all of the parents of children who were diagnosed with SCD, reported

experiencing a range of negative emotions ranging from disbelief to guilt to despair (32,

33, 41, 42). For many parents, the manner in which positive results were disclosed was

imporant, with parents overwhelming preferring to be informed in person or by telephone

rather than by letter (18, 26, 32, 42) .

Many of the parents of children diagnosed with SCD reported a need or desire to

hide their child’s positive SCD results from their family for fear of being shunned, or

treated differently by their family.


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Interpretation of Results

Lived Experience of People with Sickle Cell Disease

The studies reviewed in this paper captured parents’ experiences with the screening

process for SCD. An appreciation of the impact of SCD on affected individuals and their

caregivers and family is important. SCD is a chronic, lifelong and often debilitating

disease. Children living with SCD in high income countries have many appointments

with family doctors, SCD clinics (where available) and often have high absenteeism from

school. Parents or family caregivers often are required to be absent from work or need to

change their career to facilitate the care of a child affected with SCD (5). The lived

experience of a young man with SCD and a parent of young man with SCD are captured

on the Centers for Disease Control and Prevention website:

One young man named Lance, reflected on his experience living with SCD:

“The news altered my family dynamic in a major way. My mom, a nurse at the

time, lost her job because she needed to stay home and take care of me. Her

career goals were gone. My parents also had a separation period because of the

hardships.” (43)

Lance also shared his relationship with his siblings:

“Every time I got sick and had to go to the hospital, they [my sister and brother]

went to our grandmother’s house. To them, I received special treatment because

I needed it and they got less time and attention from my parents. To me, my

parents’ focus was always on keeping me healthy, not on my goals and dreams.

My parents always saw me as the sick child. But my siblings, they let them

spread their wings.” (43)


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A parent of a child affected with SCD shared her views on the manner in which

SCD impacted her life and that of her child:

“I finally met a man who was on track to be older than the age [doctors] gave me

for how long my son would live. When he talked to us, he didn’t talk to us from

a sense of hopelessness. He talked to us about living a life, enjoying life, and the

reality that we would have challenges, but how we view those challenges could

not take away from the life that we were still meant to live. It was a level of

hope that I had not allowed myself to have up to that point. Up until then, all I

thought about was that sickle cell was a disease that was going to kill my child,

and it was devastating. That encounter changed the course of my life and my

son’s life. I truly believe that my son is still alive today because of that

conversation.” (42)

These testaments highlight the psychological impact that SCD has on individuals

affected with SCD and their families and the value and importance of SCD screening. In

essence, SCD is a preventable disease as tools exist to detect carriers of SCT. The

incidence of SCD could be reduced or eliminated by the intentional choice of a life

partner or donor sperm that does not carry the sickle cell gene, or parents’ choice not to

procreate, or the option of prenatal diagnosis and/or pre-implantation testing (available in

high income countries) (46).

Informed Choice

The screening process for SCD in most countries is optional, whether offered

universally or at the discretion of a health care provider, prospective parents have the

choice to opt in or opt out of the screening process. The health care provider is

responsible for offering the opportunity to be screened. Informed choice is the


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cornerstone of the screening process. The terms informed consent and informed choice

are often used interchangeably, even in medical literature, but they are fundamentally two

different processes. Informed consent is the choice to accept the test(s) that have been

recommended by a clinician. Informed choice involves a deliberate decision based on

relevant knowledge and values (44). The clinician does not seek to recommend or

encourage any particular course of action, and counsels with the aim of providing

information and facilitating an autonomous choice from the patient (45). Informed choice

is the foundation of prenatal screening in Canada and many countries (45). Martineau et

al describe informed choice as:

“..an informed choice to undergo screening occurs when an individual has a

positive attitude towards undergoing a test, and has relevant knowledge about

the test and undergoes it. An informed choice to decline a test occurs when an

individual holds a negative attitude towards undergoing the test, has relevant

knowledge about the test and does not undergo it.” (44)

Within the context of this review, the health care providers were responsible for not

only offering SCD screening (either antenatally or post delivery through the newborn

screening process) but were also responsible to ensure parents fully comprehended the

purpose of the SCD screen, and the subsequent consequences and follow up options

should they or their baby screen positive for SCD or SCT. Thus, in order for women or

parents to make an informed decision to accept or decline SCD, do they need to fully

understand SCD?

The challenge is that unlike other routine tests offered during pregnancy, for

example, diabetes screening, blood tests or screening for Down Syndrome, that may be


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familiar to women, either from experience with a previous pregnancy or through

experiences of friends and family, SCD is not well known or understood (20, 21). This

was true for many of the women in the studies reviewed, particularly for women who

were not Black, who reported they were not familiar with SCD or haemoglobinopathy

screening (26, 36). Many women accepted the offer of antenatal SCD screening but

stated they did not fully understand the purpose of the SCD screen, while others reported

that the antenatal SCD screen was not presented as a choice or they perceived their health

care provider wanted them to screen for SCD, and consequently agreed to be screened

(26, 27, 36). Essentially, these women exercised informed consent rather than informed

choice (44).

Of the parents whose infant was diagnosed with SCD or SCT from the NBS, most

could not recall being informed or offered the NBS. This was true whether the NBS was

offered as a choice (opt-in program), as in the UK, or performed routinely (opt-out

program) as in Canada and the USA (17, 26, 27, 41, 42).

Brown et al propose that women make informed choices to accept or decline

antenatal SCT screening when they are offered screening at appropriate time during their

pregnancy, understand the screen and the consequences of the screen (46). Conversely,

women make an uninformed choice to accept or decline an antenatal SCD screen when

the test is offered at an appropriate time during pregnancy, but they may not understand

the screen or the consequences of not screening (46). Some of the participants in the

studies reviewed, expressed regret for accepting the SCD screen once they learned they

screened positive for SCT, as they had not contemplated the need for follow up


61

testing (26). While other women’s choice to decline SCT could be interpreted as an

uninformed choice, particularly when they stated that “sickle cell disease doesn’t run in

my family” or “I don’t feel as though I have sickle cell disease” (26, pg. 639).

The question remains when screening tests are offered for health conditions for

which most patients will be unfamiliar or are misunderstood, who bears the responsibility

of educating patients so that they may make an informed decision rather than uninformed

decision to accept or decline the screen?

Role of the Health Care Provider and the Responsibility of Education System

Role of the Health Care Provider

Family doctors, nurse practitioners and midwives are well positioned to offer

antenatal SCD screening to pregnant women, as they will often see pregnant women

within the first trimester of pregnancy. Conducting a SCD screen in the first trimester

affords women who screen positive for SCT more reproductive options, including

prenatal diagnosis, partner screening and early termination of their pregnancy should the

fetus screen positive for SCD (26). However, in my experience as a midwife, the majority

of my clients who are at risk for SCT, enter care unaware of their sickle cell carrier status

and they often report they have little or no knowledge about SCD. Literature suggests

that health care providers may have a basic knowledge of SCD but many of them do not

believe they have sufficient knowledge to counsel patients effectively on SCD, SCT or

the genetic inheritance pattern of the disease (47-50). In order to facilitate informed


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choice for antenatal SCD screening, health care providers need to be equipped to explain

SCD to their patients and answer relevant questions about SCD (49). In the studies

reviewed, some parents expressed they felt that their health care providers offered good

counsel on SCD, while others reported feeling confused and unsure of the value of SCD

screening (26, 27, 36).

Role of the Health Care Education System

Given that SCD affects millions of people worldwide and causes recurrent

morbidity, shortened life span and negatively impacts the quality of life of affected

people, do health care education systems have an obligation to arm practitioners with the

knowledgeable and capability to educate, inform and screen their patients? I argue that

every health care provider who treats patients should be able to counsel their own

patients. Most medical school, nursing and midwifery curricula fall short on teaching

students about SCD (51). SCD modules may be offered in post graduate medical

haematology residency programmes with focus on disease presentation and management,

but a more generalist approach is required, to ensure that all health care providers

understand the epidemiology, presentation, and treatment of SCD.

Vaso-occlusive crises (pain crises) are often characterized by periods of

excruciating pain that may persist for several weeks (52-54). Morphine and/or fentanyl

are the standard drugs used to manage the pain crisis. It is very well documented that

physicians and nurses are more likely to doubt SCD patients’ claims of pain, leading


63

many patients to be under medicated, labeled as drug addicts and stigmatized (52-54).

There is evidence that the stigmatizing medical language such as “narcotic dependant”,

“frequent flyer in the ER department” “insisting their pain is still a 10” is frequently

written in SCD patients’ medical charts (53). Comments such as these, when read by and

verbally relayed to health care providers, can lead to them to acquire implicit bias toward

SCD patients (53, 54). It behooves the medical and nursing academia to make more

effort to reduce and eliminate racist, harmful and stigmatizing language.

SCD may be addressed briefly and at a basic level in midwifery education

programme, in large part because midwives do not care for sickle cell patients, however,

midwives still have the capacity and responsibility, at the very least, to ensure clients

understand SCD when offering SCD screening.

Individual Screening versus Population Based Screening for Sickle Cell Disease

Antenatal Screening for Sickle Cell Disease

In the UK SCD screening is offered universally to women who are a higher risk for

SCD, that is, women of Black African, South Asian, Mediterranean or Middle Eastern

descent. In Canada and the USA, antenatal SCD screening is offered as individual

screening (26, 27). In Canada and the USA, each couple or woman is screened based on

criteria commonly associated with SCD – ethnicity of the parents and values of routine

blood work (mean corpuscular volume) (55, 56). Individual screening aims to offer

autonomy to the patient and reduce the ethical dilemma that can occur with population


64

based screened (57). However, individual screening for SCD leads to the potential of not

identifying people who may carry the SCT.

Population Based Screening for Sickle Cell Disease

Screening all people for SCD would aim to identify people who carry the sickle cell

gene irrespective of ethnicity, thus affording more reproductive options, such as choosing

not to conceive, choosing a partner who does not have SCT or engage in prenatal

diagnosis (54, 57). In the context of the studies reviewed for this paper, all the women in

the studies conducted in the UK and the Netherlands were offered antenatal screening,

which functioned as a form of population based screening (26, 36, 37-39). Universal

newborn screening in the USA functions as a population-based screening program as all

infants in the USA are screened for SCD (unless a parent declines the NBS). All infants

who carry the sickle cell gene are identified, however, there remained a challenge with

communication of SCT results in the studies reviewed (17, 18, 40).

The universal newborn screening program in Canada falls short of functioning as

population based screening for SCD on two fronts; 1) SCD is not included in the NBS in

all provinces or territories and 2) only four of the provinces and one territory that include

SCD in the NBS, disclose SCT results to parents. Parents in Ontario have the option to

request their child’s NBS results. It is unclear how many parents and primary care health

care providers are aware of this option or how many parents request their child’s results.


65

It is important to understand that a positive SCT result from a NBS indicates at least

one parent must carry the sickle cell gene (Diagram 2) (1-3). Considering that most

people are unaware of their sickle cell carrier status, and most health care providers are

not screening their patients for SCD (18, 19, 21, 26), I find it difficult to reconcile how a

government institution can justify wilfully with holding medical information that has the

potential to upend a parent’s future. One can argue that the SCT results can be released

upon request, but most parents and health care providers are unaware of the option to

request SCT results (56).

Racism in Health Care and Research

Comparing SCD education, research, treatment and screening to those for genetic

conditions with comparable consequences and hereditary patterns reveals some stark

inequities.

Many people affected with sickle cell anaemia report they feel they are treated

differently, judged and stigmatized, in particular when seeking pain relief during a pain

crisis (51).

The term racism is often difficult for many people to accept. It often conjures

images of slavery, name calling, hatred or prejudice most commonly depicted as

unjustified acts committed by the majority race toward a minority race (58). However, it

is even more difficult to accept the term racism when paired with the term healthcare –

health care providers are expected to take care of all people equally. Yet numerous


66

studies have confirmed that racism is not only alive a well in healthcare, but it is

institutionalized (59-61). Jones defines institutional racism as “differential access to the

goods, services and opportunities of society by race” (58). Racism in healthcare should

not be seen as the blatantly obvious, segregating actions practiced in the 1950s and 1960s,

but in the manner in which people are presented or not represented in medicine. Terms

such as ‘pink’, and ‘blue’ are still used in medical textbooks today to describe skin tone.

In the context of the studies reviewed for this thesis, I acknowledge that it may be

more difficult to align racism with the screening process for SCD since many of the acts

attributed to racism against people with SCD are missing – no denial of anaelgeisc drugs,

no reference to the study participants as drug addicts or drug seeking and the study

participants ethnically diverse. However, it is problematic that although the World Health

Organization (WHO) declared in 2006 that SCD is a significant global public health

concern and recommended the implementation of counselling, screening and raising

public awareness of SCD (62), parents and some health care providers in the studies

reviewed still reported having little knowledge and understanding of SCD (26).

Furthermore, although the American College of Gynecologists (55) and the Society of

Obstetricians and Gynecologists of Canada (56) recommend offering SCD screening in

early pregnancy to women and their partners who are at risk for SCD, many obstetricians

fail to meet or follow these guidelines (63). The lack of parental and health care provider

knowledge of SCD represent significant barriers to care (64), potentially leading to

missed opportunities for parents or prospective parents to be screened prior to pregnancy,

ultimately limiting parents’ reproductive options (63). Little to no public awareness of


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SCD and limited or brief education modules on SCD for health care providers contribute

to the knowledge deficit of SCD (47-49, 65).

Dr. James Herrick first identified the peculiar, sickled shape red blood cells of his

medical student in 1910 (1). A century later, much progress has been made from

identifying the gene for many haemoglobin variants and development of medications to

improved management of SCD. Yet in comparison to the progress made in the

management and screening for Tay-Sachs disease and CF, SCD has a long way to go. In

the USA disease-specific drug development has favoured CF (four versus one drug

approval for CF and SCD respectively) (52).

Tay-Sachs disease is a rare, lethal, neurodegenerative, autosomal recessive disease

that is prevalent in people of Ashkenazi Jewish descent (66). A voluntary population

based screening program for Tay-Sachs disease began in the 1970’s and to date more than

1.4 million people have been screened for Tay-Sachs disease worldwide (66). The

incidence rate of Tay-Sachs was reduced by more than 90% by 2000 (66). Montreal

implemented a high school based voluntary population screening program for Tay-Sachs

disease from 1973 to 1993, resulting in a reduction rate of the disease by 90%-95% (67).

Tay-Sachs disease is included in the newborn screening program nationally in Canada.

CF is a rare, autosomal recessive disease most prevalent in people of Northern

European ancestry, affecting the respiratory and digestive system (68). Voluntary

population based screening has been offered for CF since 1989 in many countries,

including Canada. CF disease is included in the newborn screening program nationally in


68

Canada. Additionally, CF is offered as a pre-conception screening in all provinces in

Canada (68).

There are no population based screening programs for SCD that can compare with

population based screening programs for Tay-Sachs disease or CF. In fact, a search of

most medical databases for the term ‘population based screening and sickle cell disease’

produces no specific articles. The research in SCD is still focused on disease

management, treatment and screening. A study by Farooq et al, found that more federal

funding was provided for CF as compared with SCD in the USA (52).

The SCD birth rate worldwide is estimated at more than 300,000 annually with

numbers projected to be 400,000 annually by 2050 (69). Conversely, the incidence CF is

declining worldwide and the survival rate of CF patients is increasing to a median

lifespan of 50 years (70). Early diagnosis of CF by the newborn screen, genetic

counselling for prospective parents, prenatal diagnosis and new advances in medications,

and treatment of CF, account for significant improvements in the management of CF (70).

SCD is estimated to affect 3,000 – 5,000 people in Canada (4) in comparison to 4,000

people affected with CF (70). It is difficult not to compare the SCD statistics with CF

statistics and question whether similar, nationally based strategies for SCD, such as

population based screening, national universal newborn screening for SCD and national

universal disclosure for SCT could positively impact the course of SCD in Canada.

At the writing of this thesis, a very well known and popular National Hockey

League player donned custom hockey skates and a stick bearing the SickKids’ logo, in an


69

effort to raise public awareness and money for CF and CF research. A description of CF

disease was featured prominently on several social media platforms. I could find no

similar public awareness campaigns for SCD current or past.

It is problematic that SCD receives far less focus and funding despite the burden of

the disease on patients, their families and the health care system. It is worthy to note that

SCD and SCT is the most common genetic condition identified in the newborn screening

program (71).

Reflexivity

Personal Experience of a Midwife

I have practiced midwifery for 17 years, during which time I have routinely offered

antenatal haemoglobinopathy screening, which encompasses screening for SCD and

thalassemia, to all my clients. I have also encouraged all my colleagues to follow suit. I

genuinely believed I was well informed on SCD – I understood the inheritance pattern of

SCD, and I knew that SCD and SCT trait was prevalent amongst people of Black African

descent (1). I prided myself in delving deeper and taking the time to elucidate the ethnic

background of all my clients, even when they appeared White.

Through the process of conducting this thesis, reviewing the studies for this thesis,

and being guided by a haematologist, one of my committee members, I realise that my

knowledge of SCD was inadequate. I did not know that people of Italian, Greek, South


70

Asian, and Middle Eastern descent, are at risk for SCD (1-4). I believed they were only at

risk for thalassemia. I also did not know that an incidental finding of SCT on the NBS is

only routinely disclosed to health care providers in some provinces in Canada (Table 7),

and therefore I was not aware that parents can request the SCT results from the NBS (71).

I am very embarrassed.

As I read the studies for this thesis, I recognized that I may not have offered SCD

and newborn screening as an informed choice discussion to my clients. I now recognize

my own failure to participate in informed choice discussions about SCD screening (44-

48). I should clarify that informed choice discussion is one of the three tenants of

midwifery care – of all health care providers surely, I should excel at informed choice

discussion? For all other tests that I offer in the antenatal period I do excel at conducting

an informed choice discussion (44, 45).

The problem is that my own strongly held beliefs, as a Black midwife, that all

people at risk should know their sickle cell carrier status, and my own personal

experience of being screened for SCD as an adult, have clouded my perspective. I have

been as guilty as some of the health care providers in the studies in this review. I did not

always explain the consequences of a positive SCT result – further follow-up testing for

the father of the baby, potential referral to a Prenatal Diagnostic Clinic in Hamilton. I

also did not thoroughly review the NBS with my clients during the antenatal period.


71

I have since changed my habits – I endeavour to engage in an informed choice

discussion for antenatal screening for SCD and NBS. I am still trying to reconcile my

own knowledge deficit of SCD.

Experience of a Black Nurse

My adult son works is a registered nurse at a hospital. He relayed to me his

experience with one of his patients - a young, Black man, age 20, who has SCD. He

reported to me that his patient was in the hospital for pain crisis that required

management by intravenous hydromorphone and fentanyl. It was not uncommon for his

patient to be hospitalized for a period of four weeks, during which time he always

receives opioid medication for pain relief. Two things stood out. My son reported that

none of his White, nurse colleagues believed the severity of this Black patient’s reports of

pain. The nurses allegedly assumed that his ability to ambulate in his room or to the

bathroom, was proof that his pain was not severe. They all believed he was drug seeking

and used the hospital to access opioid drugs. Unfortunately, intravenous opioids, are the

only drug of choice to manage sickle cell pain crisis. My son is unaware whether his

patient has been offered palliative care as an option to manage SCD.

This young, Black patient reported he was thrilled to have a Black, male nurse, a

first experience for him. The patient reportedly stated that none of the nurses nor

physicians believed the severity of his pain, and he reportedly expressed no one


72

comprehends his experience with pain crisis or SCD. My son’s patient’s experience

highlights the discrimination, labeling and stigma associated with SCD.

Recommendations

I believe that there is no simple solution to resolving the issues with SCD screening

and diagnosis. A multistep, interdisciplinary approach is necessary. I will outline some

options.

Implicit bias: it is important to acknowledge and embrace that the terms racism in

conjunction with the term healthcare cannot be easily unpacked. It is easier to identify

explicit bias, that is, overt expressions of prejudice and negative racial stereotypes (72),

than implicit bias, unconscious negative ethnic and racial stereotypes and attitudes (72,

73). Studies have shown that it is not uncommon for health care providers to have

unconscious negative attitudes toward Black people, while having positive attitudes to

White people (73). The challenge is that implicit bias too often negatively affects the

quality of care delivered to Black people – for example they are less likely to be referred

to specialists, are offered fewer clinical tests, their pain is poorly managed, and they are

more likely to be perceived as being less cooperative, less compliant and combative (72,

73).

Implicit racial and ethnic bias training courses have shown promise at improving

health care providers’ recognition of their own biases (74-76) and should be included in

the curriculum of all health care programs as well as a requirement of ongoing


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certification for health care providers in practice, much like the Accessibility for

Ontarians with Disabilities Act (AODA) training that is required for all employers and

employees in Ontario (77). It should be noted that some health care learners and health

care providers may resist or deny their own implicit bias (78).

Increase funding for sickle cell disease research: in the era of evidence based

medicine, medical research is often used to guide medical procedures, protocols and

policies. Health care education in turn, is influenced by updated and newly developed

procedures, protocols and policies (79, 80). SCD research continues to be underfunded

compared to funding for other inherited disorders such as CF and Tay-Sachs disease (52).

Farooq et al, found that despite SCD being three times as prevalent as CF in the USA,

both diseases received a similar amount of federal government research funding between

2008 and 2018 (52). Unfortunately, there are no comparable Canadian based studies.

There is a dire need for more SCD specific research, specifically Canadian based

SCD research. Additionally, 75% of people affected with SCD live in Africa where most

African countries lack the infrastructure and resources to conduct scientific studies, let

alone studies that would meet the rigour expected by Western world standards (69).

However, I recognize a caveat - the people for whom SCD and SCT is more prevalent are

of Black African descent. Black people are underrepresented in research and they also

tend to have distrust in medical research (79). It would be beneficial to determine ways

to engage Black sickle cell patients to participate in more research – research that could


74

potentially lead to better disease management. It is beyond the scope of this thesis to

address this in detail - this may be a topic is appropriate for PhD.

I initially wanted to focus on parents' experiences with SCD diagnosis for my

Master’s thesis, but after a thorough and detailed search, only three studies specific to

SCD met the criteria, of which only one was Canadian. I had to expand my topic to

include the screening process for SCD and diagnosis for SCT. To compound this

problem, of the 14 studies that met eligibility criteria for this review, only two were

conducted in Canada (33, 34) and 11 studies focused on SCD or SCT and cystic fibrosis

or SCD or SCT and thalassemia (17, 18, 26, 27, 36-41). This trend was also reflected in

the references of the studies - only a small percentage of the references were dedicated to

SCD or SCT only. There is need for more sickle cell specific research to guide health care

practices, policies, protocols, pharmaceutical advancement and curative treatments.

Improve sickle cell disease health care education: many studies have identified that

health care providers and health care learners, have poor knowledge and understanding of

SCD, which in turn affects their management of sickle cell patients (19, 21, 80). SCD is

still a relatively rare disease and it is likely that most health care providers will have

limited experience treating SCD patients. Furthermore, SCD is rarely included in the core

curriculum of health care programs, which could represent a missed opportunity to study

the disease in depth (51).

The studies reviewed for this thesis showed that many of the study participants had

little knowledge of SCD and they also expressed dissatisfaction with the SCD information


75

provided to them by their health care providers (26, 27, 36). Given that the majority of

health care providers who offer sickle cell disease screening and disclose positive results

are not hematologists, it would be beneficial for all non-specialty health care providers to

improve their knowledge of SCD (as well as their communication skills) thus improving

the care of their patients or clients (63).

It is also important to remember that not all sickle cell patients will have access to

SCD specialty clinics, as SCD clinics in Hamilton, or Toronto. Their care may be

managed by a health care provider who may have limited knowledge and understanding

of SCD (47-49). SCD education modules and SCD conferences have been shown to help

improve baseline knowledge of SCD, however it is unclear whether improved knowledge

is sustained (47, 50, 51, 80, 81). More research is warranted.

One study has shown that a 90 hour, three month distance course on SCD, increased

the knowledge of health care providers (81). An elective course designed by Bulgin et al

shows promise to address the knowledge gaps for SCD in core curricula (51).

There is also value in incorporating the lived experience of SCD patients and their

caregivers to guide health care providers and enhance SCD curricula (5, 82).

Hidden curriculum: there is a difference between health care pedagogy and the

clinical teaching environment. Given that SCD education is limited in most health care

programs, health care learners would likely need to learn about SCD management from

observation during clinical rotations or clinical placements (83). Stigmatizing and

labelling language is often used to describe sickle cell patients who seek medical care


76

when experiencing a pain crisis (53). The patient’s pain is usually managed with

intravenous opioid medication, and it is not uncommon for health care staff to discredit a

patient’s pain which can lead to poor management of their pain (53). Stigmatizing

language such as “frequent flyer in the ER department” “insisting their pain is still a 10”

is often used and documented in a patient’s chart, which can lead to the transmission of

bias in the medical records (53). The health care learner may acquire habits that have the

potential to become incorporated in to their practice and the cycle of stigma and labeling

could repeat once the health care learner becomes the teacher.

Health care programs should endeavour to remember that the clinical observation

may serve as a stronger and more permanent teaching tool that traditional literature based

pedagogy (84). Health care staff need to acknowledge the stigma and bias inherent in the

health care setting and appreciate the emotional and physical impact on the patient, as

some sickle cell patients develop and aversion and fear of the health care providers and

have been known to delay seeking treatment (53, 79).

Informed choice discussion and communication: the parents in this systematic

review and integrative qualitative meta-synthesis generally accepted the offer to be

screened but expressed surprise if they or their children were diagnosed with SCD or

SCT. It would appear that some the parents did not fully understand purpose for SCD

screening, the impact of the disease or the hereditary pattern of SCD (26, 27). The

parents’ comments in this review are supported by literature that reveals that knowledge

and understanding of SCD is limited (19, 20). A review by Asnani et al, revealed that


77

intervention strategies were successful at improving patient knowledge of SCD that were

sustained for a period of time (62). This lends support that a public health education

program could be beneficial for improving the knowledge of general public on SCD.

Some parents’ failure to fully comprehend the consequences of SCD screening may

also suggest that they provided inform consent for SCD screening rather than making an

informed choice decision (26, 44, 46). It would be beneficial for health care providers to

have a deeper understanding of the difference between informed consent and informed

choice (44-46), a reminder of the power dynamic of the clinician-patient dyad and the

challenges some patients may face making decisions for their health management (85).

Sickle cell disease patient directed health care provider education: the voices of

the SCD patients and caregivers of SCD patients need to be included in the development

of SCD curricula for health care learners and health care providers (5, 82). Policy

statements made only from the perspective the health care provider risks distancing and

alienating SCD patients. However, change can only occur if policy stakeholders, health

care providers, health care educators and health care learners are willing to address their

implicit biases and engage in reflexive behaviour (72-76).

It is evident from the parents’ comments in the studies in this review that health

care provider’s method of communication, whether in offering SCD screening or the

disclosure of results, is very important. Parents’ expressed more positive experiences –

feeling informed, better understanding of test results, decreased stress and anxiety – when


78

they perceived their health care provider as thorough, caring, patient and knowledgeable

of SCD (17, 18, 26, 32, 36, 42).

The studies revealed that poor communication from health care providers often had

a negative impact on experience with SCD screening and the diagnosis process of SCD

and SCT (17, 18, 26, 32, 36, 42). It would be beneficial for health care providers to

engage in education programs/courses that focus on the value of good communication,

the disadvantages to using complex and technical medical terminology and an

appreciation of patients’ reliance on internet based medical information (80). Health care

providers should also be reminded or taught the true value of reflexivity.

Limitations

Many of the parents in the studies reviewed, live in the USA. Unlike Canada, the

Netherlands, the UK, the USA does not have a universal health care system. It is possible

that some of the parents had to pay for their infant’s NBS and subsequent follow-up

appointments with doctors, potentially adding to a parent’s emotional and financial

burden. It is possible that not all the parents’ comments may be applicable to the

Canadian population. Parents of two of the studies were from Africa, where SCD is more

prevalent and SCD screening and newborn screening is not offered routinely. Once

again, these parents’ experiences may not relate well to parents who were raised or lived

in Canada, the UK or the USA.


79

Conclusions

This systematic review and integrative qualitative meta-synthesis explored parental

experiences with screening for SCD as a tool to guide health science education. Parents

overall accepted screening for SCD and appreciated learning of their own sickle cell

carrier status and that of their child. However, it is clear that many parents did not fully

understand the significance of SCD, or its inheritance pattern. Additionally, it is clear that

health care providers need to ensure they practice an informed choice discussion rather

than informed consent for SCD screening. Health care providers also need to be mindful

of the manner in which diagnostic results are delivered to patients. In particular Canada

requires a nationally based SCD strategy and network. Finally, a better follow-up system

and future reproductive options should be in place for parents and infants who have SCT.


80

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79 Omondi, N.A., Stickney Ferguson, S.E., Majhail, N.S., Denzen, E.M., Buchanan,

G.R., Haight, A.E., Labotka, R.J., Rizzo, J.D., Murphy, E.A. (2013). Barriers to

Hematopoietic Cell Transplantation Clinical Trial Participation of African-American

and Black Youth with Sickle Cell Disease and Their Parents. Journal of Pediatric

Hematological Oncology. 35(4):289-298

80 Asnani, M.R., Quimby, K.R., Bennett, N.R., Francis, D.K. (2016). Interventions for

patients and caregivers to improve knowledge of sickle cell disease and recognition

of its related complications. Cochrane Database of Systematic Reviews. 10(10):1-57

81 Santos Diniz, K.K., Pagano, A.S., Pinheiro, A.P., Afonso Reis, I., Pinheiro Junior,

K.G., de Carvalho Torres, H. (2019). Knowledge of professional healthcare providers

about sickle cell disease: Impact of a distance education course. Hematology,

Transfusion and Cell Therapy. 41(1):62-68

82 Burnes, D.P.R., Antle, B.J., Williams, C.C., Cook, L. (2008). Mothers Raising

Children with Sickle Cell Disease at the Intersection of Race, Gender and Illness

Stigma. Health and Social Work. 33(3):211-220

83 Turners, S., Krebs, E., Axtell, S. (2002). The Hidden Curriculum in Multicultural

Medical Education: The Role of Case Examples. Academic Medicine. 77(3):209-216

84 Browning, D.M., Meyer, E.C., Truog, R.D., Solomon, M.Z. (2007). Difficult

Conversations in Health Care: Cultivating Relational Learning to Address the Hidden

Curriculum. Academic Medicine. 82(9):905-913

85 Woolf, S.H., Chan, E.C.Y., Harris, R., Sheridan, S.L., Braddock 3rd, C.H., Kaplan,

R.M., Krist, A., O’Connor, A.M., Tunis, S. (2005). Promoting Informed Choice:

Transforming Health Care to Dispense Knowledge for Decision Making. Annals of

Internal Medicine. 143(4):293-300

86 Sickle Cell Trait (n.d.). Sickle Cell Awareness Group of Ontario. Retrieved at

https://sicklecellanemia.ca/?s=sickle+cell+trait


88

Appendix A

Table 5. Sickle Cell June 2019 Search Strategy

Search date: June 18, 2019

Databases searched:

OVID Medline Epub Ahead of Print, In-Process & Other Non-Indexed Citations,

Ovid MEDLINE® Daily and Ovid MEDLINE® 1946 to Present: 3054 hits

Embase (1974-2019): 5744 hits

PsychINFO: 787 hits

AMED: 14 hits

OVID Emcare: 1120 hits

CINAHL: 624 hits

Web of Science: 542 hits

6994 references after duplicates removed

Database: OVID Medline Epub Ahead of Print, In-Process & Other Non-Indexed

Citations, Ovid MEDLINE® Daily and Ovid MEDLINE® 1946 to Present

Line

#

Search Notes

1 TS=interview*

Hybrid Filter: ISI

Web of Science,

Social Science

Citation Index

Would recommend

citing in

methods/report:

DeJean D,

Giacomini M,

Simeonov D,

Smith A. Finding

Qualitative

Research

Evidence for

Health Technology

Assessment. Qual

Health Res. 2016

2 TS=(theme*)

3 TS=(thematic analysis)

4 TS=qualitative

5 TS=nursing research methodology

6 TS=questionnaire

7 TS=(ethnograph*)

8 TS= (ethnonursing)

9 TS=(ethnological research)

10 TS=(phenomenol*)

11 TS=(grounded theor*) OR TS=(grounded stud*) OR

TS=(grounded research) OR TS=(grounded analys?s)

12 TS=(life stor*) OR TS=(women's stor*)

13 TS=(emic) OR TS=(etic) OR TS=(hermeneutic) OR

TS=(heuristic) OR TS=(semiotic) OR TS=(data saturat*)

OR TS=(participant observ*)

14 TS=(social construct*) OR TS=(postmodern*) OR

TS=(post structural*) OR TS=(feminis*) OR

TS=(interpret*)

15 TS=(action research) OR TS=(co-operative inquir*)


89

16 TS=(humanistic) OR TS=(existential) OR

TS=(experiential) OR TS=(paradigm*)

Aug;26(10):1307-

17.

17 TS=(field stud*) OR TS=(field research)

18 TS=(human science)

19 TS=(biographical method*)

20 TS=(theoretical sampl*)

21 TS=(purposive sampl*)

22 TS=(open-ended account*) OR TS=(unstructured account)

OR TS=(narrative*) OR TS=(text*)

23 TS=(life world) OR TS=(conversation analys?s) OR

TS=(theoretical saturation)

24 TS=(lived experience*) OR TS=(life experience*)

25 TS=(cluster sampl*)

26 TS=observational method*

27 TS=(content analysis)

28 TS=(constant comparative)

29 TS=(discourse analys?s) or TS =(discurs* analys?s)

30 TS=(narrative analys?s)

31 TS=(heidegger*)

32 TS=(colaizzi*)

33 TS=(spiegelberg*)

34 TS=(van manen*)

35 TS=(van kaam*)

36 TS=(merleau ponty*)

37 TS=(husserl*)

38 TS=(foucault*)

39 TS=(corbin*)

40 TS=(strauss*)

41 TS=(glaser*)

42 #1 OR #2 OR #3 OR #4 OR #5 OR #6 OR #7 OR #8 OR

#9 OR #10 OR #11 OR #12 OR #13 OR #14 OR #15 OR

#16 OR #17 OR #18 OR #19 OR #20 OR #21 OR #22 OR

#23 OR #24 OR #25 OR #26 OR #27 OR #28 OR #29 OR

#30 OR #31 OR #32 OR #33 OR #34 OR #35 OR #36 OR

#37 OR #38 OR #39 OR #40 OR #41

This line combines

all the qualitative

filter keywords

43 Limit 42 to (English language and humans)

44 TS=exp Anemia, Sickle Cell Intervention terms

45 TS=exp Since Cell Trait

46 TS=sickle cell.mp. Key word

47 #44 OR #45 OR #46 This line combines

the intervention

concepts and key

word


90

48 #43 AND #47 Combine

Intervention and

filter

Database: PsychINFO (1987-2019)

Line

#

Search Notes

1 TS=interview*

Hybrid Filter: ISI

Web of Science,

Social Science

Citation Index

Would recommend

citing in

methods/report:

DeJean D,

Giacomini M,

Simeonov D,

Smith A. Finding

Qualitative

Research

Evidence for

Health Technology

Assessment. Qual

Health Res. 2016

Aug;26(10):1307-

17.

2 TS=(theme*)


4 TS=qualitative


6 TS=questionnaire

7 TS=(ethnograph*)



10 TS=(phenomenol*)









TS=(interpret*)


















91




31 TS=(heidegger*)

32 TS=(colaizzi*)


34 TS=(van manen*)

35 TS=(van kaam*)


37 TS=(husserl*)

38 TS=(foucault*)

39 TS=(corbin*)

40 TS=(strauss*)

41 TS=(glaser*)


#9 OR #10 OR #11 OR #12 OR #13 OR #14 OR #15 OR

#16 OR #17 OR #18 OR #19 OR #20 OR #21 OR #22 OR

#23 OR #24 OR #25 OR #26 OR #27 OR #28 OR #29 OR

#30 OR #31 OR #32 OR #33 OR #34 OR #35 OR #36 OR

#37 OR #38 OR #39 OR #40 OR #41

This line combines

all the qualitative

filter keywords

43 TS=sickle cell disease Intervention term


45 #43 OR #44 This line combines

the intervention

concepts and key

word


Intervention and

filter


92

Database: Embase (1974-2019)

Line

#

Search Notes

1 TS=interview*

Hybrid Filter: ISI

Web of Science,

Social Science

Citation Index

Would recommend

citing in

methods/report:

DeJean D,

Giacomini M,

Simeonov D,

Smith A. Finding

Qualitative

Research

Evidence for

Health Technology

Assessment. Qual

Health Res. 2016

Aug;26(10):1307-

17.

2 TS=(theme*)


4 TS=qualitative


6 TS=questionnaire

7 TS=(ethnograph*)



10 TS=(phenomenol*)









TS=(interpret*)




















31 TS=(heidegger*)


93

32 TS=(colaizzi*)


34 TS=(van manen*)

35 TS=(van kaam*)


37 TS=(husserl*)

38 TS=(foucault*)

39 TS=(corbin*)

40 TS=(strauss*)

41 TS=(glaser*)


#9 OR #10 OR #11 OR #12 OR #13 OR #14 OR #15 OR

#16 OR #17 OR #18 OR #19 OR #20 OR #21 OR #22 OR

#23 OR #24 OR #25 OR #26 OR #27 OR #28 OR #29 OR

#30 OR #31 OR #32 OR #33 OR #34 OR #35 OR #36 OR

#37 OR #38 OR #39 OR #40 OR #41

This line combines

all the qualitative

filter keywords


44 TS=sickle cell Intervention terms

45 TS=((sickle cell anemia) OR (hemoglobin sc disease) OR

(hemoglobin sd disease) OR (sickle cell beta thalassemia)

or (sickle cell crisis) OR (sickle cell trait)



the intervention

concepts and key

word


Intervention and

filter


94

Database: AMED (1985-2019)

Line

#

Search Notes

1 TS=interview*

Hybrid Filter: ISI

Web of Science,

Social Science

Citation Index

Would recommend

citing in

methods/report:

DeJean D,

Giacomini M,

Simeonov D,

Smith A. Finding

Qualitative

Research

Evidence for

Health Technology

Assessment. Qual

Health Res. 2016

Aug;26(10):1307-

17.

2 TS=(theme*)


4 TS=qualitative


6 TS=questionnaire

7 TS=(ethnograph*)



10 TS=(phenomenol*)









TS=(interpret*)




















31 TS=(heidegger*)


95

32 TS=(colaizzi*)


34 TS=(van manen*)

35 TS=(van kaam*)


37 TS=(husserl*)

38 TS=(foucault*)

39 TS=(corbin*)

40 TS=(strauss*)

41 TS=(glaser*)


#9 OR #10 OR #11 OR #12 OR #13 OR #14 OR #15 OR

#16 OR #17 OR #18 OR #19 OR #20 OR #21 OR #22 OR

#23 OR #24 OR #25 OR #26 OR #27 OR #28 OR #29 OR

#30 OR #31 OR #32 OR #33 OR #34 OR #35 OR #36 OR

#37 OR #38 OR #39 OR #40 OR #41

This line combines

all the qualitative

filter keywords

43 TS=anemia, sickle cell Intervention term



the intervention

concepts and key

word


Intervention and

filter


96

Database: OVID Emcare

Line

#

Search Notes

1 TS=interview*

Hybrid Filter: ISI

Web of Science,

Social Science

Citation Index

Would recommend

citing in

methods/report:

DeJean D,

Giacomini M,

Simeonov D,

Smith A. Finding

Qualitative

Research

Evidence for

Health Technology

Assessment. Qual

Health Res. 2016

Aug;26(10):1307-

17.

2 TS=(theme*)


4 TS=qualitative


6 TS=questionnaire

7 TS=(ethnograph*)



10 TS=(phenomenol*)









TS=(interpret*)




















31 TS=(heidegger*)


97

32 TS=(colaizzi*)


34 TS=(van manen*)

35 TS=(van kaam*)


37 TS=(husserl*)

38 TS=(foucault*)

39 TS=(corbin*)

40 TS=(strauss*)

41 TS=(glaser*)


#9 OR #10 OR #11 OR #12 OR #13 OR #14 OR #15 OR

#16 OR #17 OR #18 OR #19 OR #20 OR #21 OR #22 OR

#23 OR #24 OR #25 OR #26 OR #27 OR #28 OR #29 OR

#30 OR #31 OR #32 OR #33 OR #34 OR #35 OR #36 OR

#37 OR #38 OR #39 OR #40 OR #41

This line combines

all the qualitative

filter keywords


44 TS=(sickle cell) or (sickle cell anemia) or (sickle cell beta

thalassemia) or (sickle cell crisis)

Intervention terms



the intervention

concepts and key

word


Intervention and

filter


98

Database: CINAHL

Line

#

Search Notes

1 TS=interview*

Hybrid Filter: ISI

Web of Science,

Social Science

Citation Index

Would recommend

citing in

methods/report:

DeJean D,

Giacomini M,

Simeonov D,

Smith A. Finding

Qualitative

Research

Evidence for

Health Technology

Assessment. Qual

Health Res. 2016

Aug;26(10):1307-

17.

2 TS=(theme*)


4 TS=qualitative


6 TS=questionnaire

7 TS=(ethnograph*)



10 TS=(phenomenol*)









TS=(interpret*)




















31 TS=(heidegger*)


99

32 TS=(colaizzi*)


34 TS=(van manen*)

35 TS=(van kaam*)


37 TS=(husserl*)

38 TS=(foucault*)

39 TS=(corbin*)

40 TS=(strauss*)

41 TS=(glaser*)


#9 OR #10 OR #11 OR #12 OR #13 OR #14 OR #15 OR

#16 OR #17 OR #18 OR #19 OR #20 OR #21 OR #22 OR

#23 OR #24 OR #25 OR #26 OR #27 OR #28 OR #29 OR

#30 OR #31 OR #32 OR #33 OR #34 OR #35 OR #36 OR

#37 OR #38 OR #39 OR #40 OR #41

This line combines

all the qualitative

filter keywords

43 TS=anemia, sickle cell Intervention terms

44 TS=sickle cell trait



the intervention

concepts and key

word


Intervention and

filter


100

Database: Web of Science (Social Science Citation Index)

Line

#

Search Notes

1 TS=interview*

Hybrid Filter: ISI

Web of Science,

Social Science

Citation Index

Would recommend

citing in

methods/report:

DeJean D,

Giacomini M,

Simeonov D,

Smith A. Finding

Qualitative

Research

Evidence for

Health Technology

Assessment. Qual

Health Res. 2016

Aug;26(10):1307-

17.

2 TS=(theme*)


4 TS=qualitative


6 TS=questionnaire

7 TS=(ethnograph*)



10 TS=(phenomenol*)









TS=(interpret*)




















31 TS=(heidegger*)


101

32 TS=(colaizzi*)


34 TS=(van manen*)

35 TS=(van kaam*)


37 TS=(husserl*)

38 TS=(foucault*)

39 TS=(corbin*)

40 TS=(strauss*)

41 TS=(glaser*)


#9 OR #10 OR #11 OR #12 OR #13 OR #14 OR #15 OR

#16 OR #17 OR #18 OR #19 OR #20 OR #21 OR #22 OR

#23 OR #24 OR #25 OR #26 OR #27 OR #28 OR #29 OR

#30 OR #31 OR #32 OR #33 OR #34 OR #35 OR #36 OR

#37 OR #38 OR #39 OR #40 OR #41

This line combines

all the qualitative

filter keywords



Intervention and

filter


102

Appendix B

Table 6. Characteristics of Excluded Studies

Author(s) Title Country Topic Style Exclusion

Criteria

Acharya, K.,

et al. (2009)

A Pilot Study to

Explore

Knowledge,

Attitudes, and

Beliefs about-

Sickle Cell Trait

and Disease

USA Opinions

about sickle

cell trait

Interviews

and

surveys

Not about

parental

experience

with

screening

Ahmad, N.Y.,

Farrell, MH

(2014)

Linguistic

markers of

emotion in

mothers of sickle

cell carrier

infants: What are

they and what do

they mean?

USA Diagnosis of

carrier status

from

newborn

screening

Interviews

and

surveys

Results

presented

quantitatively

Alexander, S.,

et al. (2017)

Knowledge of and

attitudes toward

heel prick

screening for

sickle cell disease

in Saint Lucia

Jamaica Knowledge

of newborn

screening

Interviews

and survey

Not about

parental

experience

with

screening

Atkin, K., et

al. (1998)

Screening and

counseling for

sickle cell

disorders and

thalassaemia: the

experience of

parents and health

professionals

UK Screening Interviews Prior to 2006

Dennis-Antwi,

J. A., et al.

(2011)

I can die today, I

can die

tomorrow': Lay

perceptions of

sickle cell disease

in Kumasi, Ghana

at a point of

transition

Africa Fathers

perspective

of their

child’s sickle

cell disease

Interviews Not about

experience

with the

screening

process


103

Table 6. cont. Characteristics of Excluded Studies


Criteria

Dormandy, E.,

et al. (2007)

Development of a

measure of

informed choice

suitable for use in

low literacy

populations

UK Informed

choice

Interviews

and

surveys

Quantitative

Dyson, S. M.,

et al. (2007)

Ethnicity

questions and

antenatal

screening for

sickle

cell/thalassaemia

(EQUANS) in

England:

observation and

interview study

UK Antenatal

barriers to

screening


parental

experience of

screening for

sickle cell

disease

Guedes, C.

(2012)

Reproductive

decisions and

newborn

screening: The

perspective of

female caregivers

of children with

sickle cell disease

Brazil Mothers of

children

with sickle

cell disease

perception

of screening

Interviews Not English

Hill, M., et al.

(2014)

Client views and

attitudes to non-

invasive prenatal

diagnosis for

sickle cell

disease,

thalassaemia and

cystic fibrosis.

USA Opinion of

genetic

testing


parental

experience of

screening for

sickle cell

disease

Hill, S. A.

(1994)

Motherhood and

the obfuscation of

Medical

Knowledge: The

Case of Sickle

Cell Disease

USA Screening of

know sickle

cell disease

mothers

Interviews Prior to 2006


104



Criteria

Kai, J., et al.

(2009)

Communication

of carrier status

information

following

universal

newborn

screening for

sickle cell

disorders and

cystic fibrosis:

qualitative study

of experience and

practice

UK

Disclosure

of carrier

status

Interviews Not primary

Lang, C. W.,

et al. (2009)

Maternal

knowledge and

attitudes about

newborn

screening for

sickle cell disease

and cystic fibrosis

USA Knowledge

of Newborn

screen

Interview

and

surveys

Quantitative

Lawrence,

R.H.,

Bediako, M.S.

(2012)

Social and

behavioral

implications of

the NCAA-

mandated sickle

cell trait testing

policy

USA Screening of

athletes

Interview

and

surveys

Abstract

Lebensburger,

J.D., et al.

(2012)

The process of

acquiring health

education for first

time parents of an

infant with sickle

cell disease

USA Health

education

for parents

with sickle

cell child

Interviews

and

surveys

Poster


105



Criteria

Leppert, K., et

al. (2018)

Genetic

Counselors'

Experience with

and Opinions on

the Management

of Newborn

Screening

Incidental Carrier

Findings

USA Disclosure

of incidental

sickle cell

trait finding

Interviews

and

surveys

Not Parent

Long, K. A.,

et al. (2011)

Attitudes and

beliefs of African-

Americans toward

genetics, genetic

testing, and sickle

cell disease

education and

awareness

USA Perception

of genetic

testing


parental

experience of

screening for

sickle cell

disease

Mayo-

Gamble, T.L.

et al (2018)

‘It means

everyone should

know their

status’: exploring

lay conceptions of

sickle cell trait

and sickle cell

trait screening

among African

Americans within

middle

reproductive age

USA Screening

antenatally

Interviews

and

surveys

Not about

parental

experience of

screening for

sickle cell

disease

Middleton, J.,

et al. (2018)

Communication

with children

about sickle cell

disease: A

qualitative study

of parent

experience

UK How parents

interact with

children with

sickle cell

disease


parental

experience of

screening for

sickle cell

disease


106



Criteria

Moody, L., et

al. (2017)

Healthcare

professionals' and

parents'

experiences of the

confirmatory

testing period: a

qualitative study

of the UK

expanded

newborn

screening pilot.

UK Experience

with positive

newborn

screen -

Interviews Not sickle

cell

Noke, M. and

Ulph, F.

(2014)

Young adults'

pre-existing

knowledge of

cystic fibrosis and

sickle cell

diseases:

implications for

newborn

screening

UK Knowledge

of newborn

screening

Interviews Not about the

experience of

screening for

sickle cell

disease

Noke, M., et

al. (2016)

A qualitative

study to explore

how professionals

in the United

Kingdom make

decisions to test

children for a

sickle cell carrier

status

UK Health care

professionals

opinion on

screening

Interviews Not parent

O'Connor, S.,

et al. (2014)

Attitudes among

healthcare

providers and

patients

diagnosed with

sickle cell

disease.

USA Diagnosis -

Experience

of diagnosis

of sickle cell

disease –

young adults



107



Criteria

Ross, P. T.

(2015)

Motivations of

women with

sickle cell disease

for asking their

partners to

undergo genetic

testing

USA Partner

testing for

sickle cell

disease


experience of

screening for

sickle cell

disease

Shook, L. M.,

et al. (2011)

Preferences for

genetic

counseling and

educational

materials for

African

immigrant

families with a

child diagnosed

with sickle cell

disease

UK Diagnosis –

African

Immigrants

experience


Skirton, H., et

al. (2015)

An easy test but a

hard decision:

Ethical issues

concerning non-

invasive prenatal

testing for

autosomal

recessive

disorders

UK Antenatal

screening

Interviews Not sickle

cell

Stewart, K. A.

(2008)

An examination

of African

American college

students'

knowledge and

attitudes

regarding sickle

cell disease and

sickle cell disease

carrier testing: A

mixed methods

study

USA Screening –

knowledge

about

screening

Interviews Not peer

reviewed


108



Criteria

Treadwell, M.

J., et al.

(2006)

Using qualitative

and quantitative

strategies to

evaluate

knowledge and

perceptions about

sickle cell disease

and sickle cell

trait

USA Knowledge

of sickle

disease –

indirectly

related to

screening


experience of

screening for

sickle cell

disease

Ulph, F., et al.

(2014)

Informing

children of their

newborn

screening carrier

result for sickle

cell or cystic

fibrosis:

qualitative study

of parents'

intentions, views

and support needs

UK Disclosure

of sickle cell

status to

children


experience of

screening for

sickle cell

disease

Warren, N. S.,

et al. (1982)

Newborn

screening for

hemoglobinopathi

es in New York

State: Experience

of physicians and

parents of

affected children

USA Screening

and

diagnosis -


Wright, S. W.,

et al. (1994)

Screening for

sickle-cell trait in

the emergency

department."

USA Screening -

Antenatal/Pr

e-conceptual

screening of

me and

women in an

ER



109

Appendix C

Table 7. Newborn Screen for Sickle Cell Disease in Canada

Province Sickle Cell Disease

included in the

Newborn Screen

Routine Disclosure

of Sickle Cell Trait

Results

Alberta Yes Yes

British Columba Yes No (disclosed only

upon request)

Manitoba No N/A

New Brunswick Yes Yes

Newfoundland Yes Yes

North West Territories No N/A

Nova Scotia Yes Yes

Nunavut No N/A

Ontario Yes No (disclosed only

upon request)

Prince Edward Island Yes Yes

Quebec Yes No (disclosed only

upon request)

Saskatchewan No N/A

Yukon Yes Yes

Sickle Cell Awareness Group of Ontario (86)


110

Appendix D

Table 8. Sickle Cell Trait Disclosure Practice (countries listed in the studies reviewed)

Country

(in studies

reviewed)

Antenatal Screening Sickle Cell Disease included

on Newborn Screen

Disclosure of SCT

finding

Canada Offered at health

care provider’s

discretion

Universal screening offered

in 8 provinces and one

territory2. Opt-out system3

Alberta, New

Brunswick,

Newfoundland and

Labrador, Nova

Scotia, Prince

Edward Island and

the Yukon

Netherlands Universal Screening

(for study only)

National Universal

screening

Not reported to

parents

United

Kingdom

Universal screening

offered for women

at risk1

Offered as a choice. Opt-in 4 Reported to parents.

No national reporting

standard

United States of

America

Offered at health

care provider’s

discretion

National Universal

screening (50 states). Opt-

out system3

Reported to parents.

No national reporting

standard

1 Includes women of African, Black Caribbean, Mediterranean, Middle Eastern or South

Asian descent (26)

2 Offered in Alberta, British Columbia, New Brunswick, Newfoundland and Labrador, Nova

Scotia, Ontario, Prince Edward Island, Quebec and the Yukon (28)

3 Opt-out system – Infants will be tested automatically unless parent(s) decline(s). A refusal

form required to be signed (28)

4 Opt-in system – Parent(s) is/are offered newborn screen. Consent required (27)

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